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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02040.hp1 HG02698.hp1 others(2): Show HG01167.hp1 HG02040.hp1 HG02698.hp1 HG03688.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0148 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0148 a0001c0001t0002g0067 a0001c0001t0002g0142	5	166	0.0301	34	c.527 others(53): Show c.527+34177_527+34178insATATATATATATATATATATATATAT ATATATAT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546394	T T	TCTTCTTC others(27): Show TCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	166	0.0060	34	c.640 others(53): Show c.640+32013_640+32014insTTCTTCTTCCTCTTCTTCTTCTTCCT TCTTCTTC		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(27): Show CTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18989.hp1 NA19091.hp1 HG00673.hp1 NA18989.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0002g0036 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0002g0036	3	166	0.0181	34	c.640 others(53): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCCTTCTTCT TCCTTCTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11						chrX	TogoVar
DACT2_chr6_168301904_168324777	168311551	T T	TACACACA others(27): Show TACACACACACACAAACACACACACCCATACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(32): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG01175.hp2 HG01361.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02300.hp2 HG02698.hp2 HG02896.hp1 HG03139.hp1 NA18747.hp1 NA18949.hp1 NA18955.hp1 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18990.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19082.hp1 NA20300.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0008 a0013 a0023 a0024	a0001c0001 a0002c0003 a0002c0005 others(6): Show a0001c0001 a0002c0003 a0002c0005 a0002c0033 a0006c0008 a0008c0035 a0013c0018 a0023c0031 a0024c0032	a0001c0001t0001 a0002c0003t0003 a0002c0003t0006 others(7): Show a0001c0001t0001 a0002c0003t0003 a0002c0003t0006 a0002c0005t0006 a0002c0033t0003 a0006c0008t0006 a0008c0035t0004 a0013c0018t0006 a0023c0031t0006 a0024c0032t0006	a0001c0001t0001g0290 a0002c0003t0003g0007 a0002c0003t0003g0024 others(24): Show a0001c0001t0001g0290 a0002c0003t0003g0007 a0002c0003t0003g0024 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0178 a0002c0003t0006g0018 a0002c0003t0006g0210 a0002c0003t0006g0265 a0002c0003t0006g0271 a0002c0003t0006g0280 a0002c0003t0006g0309 a0002c0003t0006g0325 a0002c0003t0006g0327 a0002c0005t0006g0009 a0002c0005t0006g0030 a0002c0005t0006g0031 a0002c0005t0006g0063 a0002c0005t0006g0238 a0002c0033t0003g0079 a0006c0008t0006g0010 a0006c0008t0006g0295 a0008c0035t0004g0080 a0013c0018t0006g0291 a0013c0018t0006g0292 a0023c0031t0006g0326 a0024c0032t0006g0321	35	476	0.0735	34	c.247 others(49): Show c.247-268_247-267insGTGTGTATGGGTGTGTGTGTTTGTGTGTGT GTGT		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DACT2_chr6_168301904_168324777	168321797	T T	TTTCTTCT others(27): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0004 a0005c0040t0004	a0005c0040t0004g0190 a0005c0040t0004g0190	1	476	0.0021	34	c.-21 others(45): Show c.-2165_-2164insGAAGAGAGAAGAAGAAGAAGAAGAAGAAGAAGAA		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2021		chr6	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(27): Show TCAGCGCGGGAAGGCGCAGGCAGCGCGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0204 a0001c0004t0002g0204	1	380	0.0026	34	c.121 others(51): Show c.1218+419_1218+420insCGCCTTCCCGCGCTGCCTGCGCCTTCCC GCGCTG		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18966.hp2 NA18978.hp1 others(1): Show NA18952.hp1 NA18966.hp2 NA18978.hp1 NA18998.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0005 a0001c0002 a0002c0003 a0003c0005	a0001c0002t0002 a0002c0003t0001 a0003c0005t0001 a0001c0002t0002 a0002c0003t0001 a0003c0005t0001	a0001c0002t0002g0126 a0001c0002t0002g0127 a0002c0003t0001g0046 others(1): Show a0001c0002t0002g0126 a0001c0002t0002g0127 a0002c0003t0001g0046 a0003c0005t0001g0302	4	380	0.0105	34	c.929 others(49): Show c.929+229_929+230insATATATATATATATATATATATATATATAT ATAT		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14						chr7	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	412	0.0024	34	c.26 others(45): Show c.2622_*2623insTCTCTCTCTCTCTATATATATATATATATATATA		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding					2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	412	0.0024	34	c.26 others(45): Show c.2622_*2623insTCTCTCTCTCTCTCTCTCTCTCTATATATATATA		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding					2389		chr13	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACACAC others(27): Show ACACACACACCCCAACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0162 a0002c0015t0002g0162	1	236	0.0042	34	c.63- others(51): Show c.63-33480_63-33479insACACACACCCCAACACACACACACACAC ACACCC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACACAC others(27): Show ACACACACACCCCAACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02486.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0196 a0001c0005t0001g0061 a0001c0001t0001g0196 a0001c0005t0001g0061	2	236	0.0085	34	c.63- others(51): Show c.63-33480_63-33479insACACACACCCCAACACACACACACACAC ACCCCC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACACAC others(27): Show ACACACACCCCAACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	236	0.0042	34	c.63- others(51): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCCCC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACCCCA others(27): Show ACACCCCAACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0151 a0002c0016t0001g0151	1	236	0.0042	34	c.63- others(51): Show c.63-33480_63-33479insACCCCAACACACACACACACACACACAC ACACCC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACCCCAAC others(27): Show ACCCCAACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0064 a0002c0006t0001g0064	1	236	0.0042	34	c.63- others(51): Show c.63-33479_63-33478insCCAACACACACACACACACACACACACA CACCCC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(27): Show CCCAACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG03130.hp1 others(4): Show HG02257.hp2 HG02559.hp1 HG03130.hp1 HG03471.hp2 NA19065.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0002c0008 a0003c0007 a0004c0018	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0002c0008t0002 a0003c0007t0002 a0004c0018t0001	a0001c0001t0001g0078 a0001c0001t0001g0145 a0001c0004t0001g0165 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0145 a0001c0004t0001g0165 a0002c0003t0001g0222 a0002c0008t0002g0193 a0003c0007t0002g0106 a0004c0018t0001g0110	7	236	0.0297	34	c.63- others(51): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CACACA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25						chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571498	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	236	0.0042	34	c.63- others(51): Show c.63-33426_63-33425insACACACACACACACACACACACACACAC ACACAC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571506	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0223 a0004c0013t0001g0223	1	236	0.0042	34	c.63- others(51): Show c.63-33426_63-33425insACACACACCCCAACACACACACACACAC ACACAC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAW1_chr2_227866631_227929344	227911239	C C	CATATATA others(27): Show CATATATACACGTGTATATATACATATACACGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02896.hp2 others(4): Show HG02647.hp1 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03209.hp2 NA18906.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0011 a0001c0001 a0001c0003 a0005c0011	a0001c0001t0001 a0001c0003t0001 a0005c0011t0001 a0001c0001t0001 a0001c0003t0001 a0005c0011t0001	a0001c0001t0001g0061 a0001c0003t0001g0298 a0001c0003t0001g0300 others(4): Show a0001c0001t0001g0061 a0001c0003t0001g0298 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0005c0011t0001g0299	7	340	0.0206	34	c.973 others(51): Show c.973+3996_973+3997insCGTGTATATATACATATACACGTGTATA TATACA		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DAXX_chr6_33313558_33327959	33318755	T T	TCTCTCAA others(27): Show TCTCTCAACAACAACAACGGAGGAGGAGGAAAAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0026 a0006c0011t0001g0026	1	375	0.0027	34	c.221 others(43): Show c.2210_2211insTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAG	p.Asp others(5): Show p.Asp738fs	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	8/8	2360/2558	2210/2223	737/740			chr6	TogoVar
DAZAP2_chr12_51233826_51248933	51248434	A A	ACACACAC others(27): Show ACACACACACTCTCACTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	34	c.59 others(45): Show c.5976_*5977insCACACACACTCTCACTCTCTCTCTCTCTCTCTCT		DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding					4502		chr12	TogoVar
DAZL_chr3_16581792_16610423	16585009	C C	CATTAAAA others(27): Show CATTAAAAATGTAAAATACAGTTAAAAATGTAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	446	0.0022	34	c.36 others(45): Show c.3650_*3651insTTTTACATTTTTAACTGTATTTTACATTTTTAAT		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					1782		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	2	446	0.0045	34	c.-43 others(45): Show c.-4392_-4391insTATATATATATATACACACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	446	0.0022	34	c.-43 others(45): Show c.-4392_-4391insTATATATATATACACACACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DBNL_chr7_44039702_44074456	44043056	T T	TATATACA others(27): Show TATATACATATACATATGCATATATACATATGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	380	0.0026	34	c.-16 others(45): Show c.-1682_-1681insATATACATATACATATGCATATATACATATGCAC		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1645		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043284	T T	TATATATG others(27): Show TATATATGTATACCTATACCTATGCATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01081.hp1 others(5): Show HG00639.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01255.hp1 HG02280.hp1 HG02809.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0050 a0001c0001t0053 a0001c0001t0003 a0001c0001t0050 a0001c0001t0053	a0001c0001t0003g0009 a0001c0001t0003g0017 a0001c0001t0050g0075 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0017 a0001c0001t0050g0075 a0001c0001t0053g0017	8	380	0.0211	34	c.-14 others(45): Show c.-1454_-1453insATATATGTATACCTATACCTATGCATATATATAC		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1417		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043370	T T	TCTATGCA others(27): Show TCTATGCATATATATACATATATGTATACCTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02572.hp2 others(2): Show HG01891.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0047 a0001c0002t0048 a0001c0002t0019 a0001c0002t0047 a0001c0002t0048	a0001c0002t0019g0019 a0001c0002t0047g0019 a0001c0002t0048g0107 a0001c0002t0019g0019 a0001c0002t0047g0019 a0001c0002t0048g0107	5	380	0.0132	34	c.-13 others(45): Show c.-1368_-1367insCTATGCATATATATACATATATGTATACCTATAC		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1331		chr7	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18967.hp2 HG03942.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0039 a0001c0001t0003g0042	2	244	0.0082	34	c.665 others(53): Show c.665+10451_665+10452insATATATATATATATATATATATATAT ATATATAT		DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8						chr14	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0138 a0012c0012t0001g0138	1	262	0.0038	34	c.-34 others(51): Show c.-342+575_-342+576insTATATATATATATATATATATATATATA TATATA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27606358	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02135.hp1 HG03209.hp1 HG01891.hp1 HG02135.hp1 HG03209.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0006 a0007c0007 a0002c0002 a0006c0006 a0007c0007	a0002c0002t0001 a0006c0006t0001 a0007c0007t0003 a0002c0002t0001 a0006c0006t0001 a0007c0007t0003	a0002c0002t0001g0139 a0006c0006t0001g0032 a0007c0007t0003g0070 a0002c0002t0001g0139 a0006c0006t0001g0032 a0007c0007t0003g0070	3	262	0.0115	34	c.-34 others(55): Show c.-342+15942_-342+15943insATATATATATATATATATATATAT ATATATATAT		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(27): Show TATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0060 a0008c0008t0003g0074 a0008c0008t0003g0060 a0008c0008t0003g0074	2	262	0.0076	34	c.-14 others(55): Show c.-142-11914_-142-11913insTATATATATATATATATATATACA CACACACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0073 a0005c0005t0003g0073	1	262	0.0038	34	c.-14 others(55): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA CACACACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(27): Show TATATATATATATATATATATATATACATACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0122 a0001c0017t0001g0122	1	262	0.0038	34	c.-14 others(55): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA CATACACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19081.hp1 HG03540.hp2 NA19081.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0003 a0002c0002t0002 a0004c0004t0003	a0002c0002t0002g0012 a0004c0004t0003g0066 a0002c0002t0002g0012 a0004c0004t0003g0066	2	262	0.0076	34	c.-14 others(55): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA TACACACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0100 a0015c0016t0001g0100	1	262	0.0038	34	c.-14 others(55): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA TATACACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(27): Show AAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG04184.hp1 NA19074.hp1 HG02723.hp2 HG04184.hp1 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0007 a0003c0006t0007 a0001c0002t0007 a0003c0006t0007	a0001c0002t0007g0161 a0003c0006t0007g0163 a0003c0006t0007g0166 a0001c0002t0007g0161 a0003c0006t0007g0163 a0003c0006t0007g0166	3	330	0.0091	34	c.433 others(53): Show c.433+10802_433+10803insCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTT		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15						chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0022 a0001c0015t0022	a0001c0015t0022g0101 a0001c0015t0022g0101	1	114	0.0088	34	c.91+ others(53): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	30888098	A A	AAGAAAAA others(27): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0079 a0004c0008t0001g0079	1	152	0.0066	34	c.508 others(53): Show c.5082+4719_5082+4720insCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCT		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	36/38						chr11	TogoVar
DCDC1_chr11_30858603_31374739	30968711	T T	TTATATAT others(27): Show TTATATATATATCAAATTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0006 a0004c0009t0001g0006	1	152	0.0066	34	c.259 others(55): Show c.2592-16144_2592-16143insTATATATATATATATATAATTTGA TATATATATA		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	20/38						chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACATATA others(27): Show CACATATACATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0118 a0001c0006t0002g0118	1	152	0.0066	34	c.105 others(53): Show c.1055-8800_1055-8799insATATATATATATATATATATGTATAT GTATATGT		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38						chr11	TogoVar
DCDC2C_chr2_3698575_3853008	3704594	G G	GGGGGCGT others(27): Show GGGGGCGTGGGGGGCGTGGGGGAGGGGTGTGGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	324	0.0031	34	c.287 others(49): Show c.287+568_287+569insGCGTGGGGGAGGGGTGTGGAGAGGGGCGTG GGGG		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24359101	T T	TTATATAT others(27): Show TTATATATTATATATTATATATATTATATATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 NA18952.hp1 HG01978.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0007 a0001c0001t0008 a0002c0002t0007	a0001c0001t0008g0190 a0002c0002t0007g0191 a0001c0001t0008g0190 a0002c0002t0007g0191	2	216	0.0093	34	c.-13 others(45): Show c.-1352_-1351insTAAAATATATAATATATATAATATATAATATATA		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding					1043		chr6	TogoVar
DCHS1_chr11_6616330_6660809	6655824	C C	CCCCCTCC others(27): Show CCCCCTCCCCTCCCCTCCCCCCCGCCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG01109.hp1 others(2): Show HG00438.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0030 a0002c0004t0001g0008 a0002c0004t0001g0011 others(2): Show a0001c0001t0001g0030 a0002c0004t0001g0008 a0002c0004t0001g0011 a0002c0004t0001g0026 a0002c0004t0001g0061	5	374	0.0134	34	c.-38 others(43): Show c.-383_-382insAGGGGAGGGGGCGGGGGGGAGGGGAGGGGAGGGG		DCHS1	ENSG00000166341.9	transcript	ENST00000299441.5	protein_coding					16		chr11	TogoVar
DCHS2_chr4_154226742_154496799	154389516	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0003 a0014c0012t0003	a0014c0012t0003g0174 a0014c0012t0003g0174	1	192	0.0052	34	c.205 others(55): Show c.2053-12073_2053-12072insTATATATATATATATATATATATA TATATATATA		DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	1/19						chr4	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 HG02970.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0022 a0001c0009t0011 a0001c0001t0022 a0001c0009t0011	a0001c0001t0022g0076 a0001c0009t0011g0149 a0001c0001t0022g0076 a0001c0009t0011g0149	2	230	0.0087	34	c.140 others(53): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16						chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251320	A A	ACACACCC others(27): Show ACACACCCCCCACACCACACATCCCTCACACCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	116	0.0086	34	c.207 others(53): Show c.2073+1638_2073+1639insCACCCCCCACACCACACATCCCTCAC ACCCCCCA		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DCP1A_chr3_53278429_53352543	53291215	A A	ATTTATGT others(27): Show ATTTATGTATATGTATTTATGTATATGTATTTATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03453.hp2 HG02896.hp1 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0058 a0001c0002t0019 a0001c0002t0058	a0001c0002t0019g0013 a0001c0002t0019g0014 a0001c0002t0058g0012 a0001c0002t0019g0013 a0001c0002t0019g0014 a0001c0002t0058g0012	3	366	0.0082	34	c.138 others(51): Show c.1384-360_1384-359insCATAAATACATATACATAAATACATATA CATAAA		DCP1A	ENSG00000272886.6	transcript	ENST00000610213.6	protein_coding	7/9						chr3	TogoVar
DCP2_chr5_112971798_113027195	112984697	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	364	0.0028	34	c.54- others(49): Show c.54-1137_54-1136insTATATATATATATATATATATATATATATA TATA		DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
DCP2_chr5_112971798_113027195	112984701	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18989.hp1 NA19065.hp1 HG00408.hp1 NA18989.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0014 a0001c0002t0009 a0001c0002t0014	a0001c0002t0009g0069 a0001c0002t0014g0005 a0001c0002t0009g0069 a0001c0002t0014g0005	3	364	0.0082	34	c.54- others(49): Show c.54-1133_54-1132insTATATATATATATATATATATATATATATA TATA		DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	364	0.0028	34	c.54- others(49): Show c.54-1110_54-1109insATATATATATATATATATATATATATATAT ATAT		DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02615.hp1 NA19000.hp2 HG02129.hp1 HG02615.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0067 a0001c0001t0001g0001 a0001c0001t0003g0067	3	318	0.0094	34	c.12 others(47): Show c.12593_*12594insTATATATATATATATATAGAGAGAGAGAGAGA GA		DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding					920		chr11	TogoVar

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