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
CT47C1_chrX_119067993_119081765	119073870	TGCAGAAG others(41): Show TGCAGAAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGGAGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02886.hp1 HG03139.hp1 others(8): Show HG01891.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA18946.hp2 NA18969.hp2 NA18991.hp1 NA19085.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0007 a0002c0012 a0002c0013 others(2): Show a0002c0007 a0002c0012 a0002c0013 a0004c0005 a0006c0008	a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 others(3): Show a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 a0004c0005t0002 a0006c0008t0003 a0006c0008t0005	a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 others(3): Show a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 a0004c0005t0002g0002 a0006c0008t0003g0013 a0006c0008t0005g0012	11	310	0.0355	-48	c.699 others(55): Show c.699_746delAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGG AGGCCGCAGA	p.Glu others(13): Show p.Glu234_Glu249del	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	932/1772	699/975	233/324		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTNNA2_chr2_79508051_80653780	80043083	CTTTCTTT others(41): Show CTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0004 a0001c0002t0001g0022	2	68	0.0294	-48	c.105 others(71): Show c.1056+133288_1056+133335delTTCTTTCTTTCTCTCTCTCTCT CTCTCTTTCTTTCTCCTTCCTTCCTT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80075574	TAATATTT others(41): Show TAATATTTATACATGTATAAATATAAATATTTATACATGTATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02572.hp2 others(2): Show HG02109.hp1 HG02257.hp2 HG02572.hp2 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0002t0003g0036 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0002t0003g0036 a0001c0004t0001g0021 a0001c0007t0001g0068	5	68	0.0735	-48	c.105 others(71): Show c.1056+165801_1056+165848delAAATATTTATACATGTATAAAT ATAAATATTTATACATGTATAAATAT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNBL1_chr20_37689030_37877118	37718241	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp1 NA18982.hp1 HG01943.hp2 HG02293.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	3	266	0.0113	-48	c.31- others(65): Show c.31-14631_31-14584delACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCC		CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11623789	AATATATA others(41): Show AATATATATATGTGTGTATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0025 a0001c0006t0002g0025	1	26	0.0385	-48	c.175 others(67): Show c.175-58781_175-58734delATATATATATATATATATATATATAT ATACATACACACATATATATAT		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21						chr5	TogoVar
CTSS_chr1_150725188_150770778	150728986	CCCCCCCA others(41): Show CCCCCCCACCTGCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG02015.hp1 HG00280.hp1 HG01515.hp2 HG02015.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0247 a0001c0001t0003g0249 a0003c0003t0001g0111 a0001c0001t0003g0247 a0001c0001t0003g0249 a0003c0003t0001g0111	3	344	0.0087	-48	c.40 others(59): Show c.4012_*4059delTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGG AGGCAGGTGGGGGG		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding					1201		chr1	TogoVar
CTSS_chr1_150725188_150770778	150744102	ATTATATA others(41): Show ATTATATATTATATGTATATTATGTATACATAATATGTACACATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01071.hp2 others(12): Show HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01943.hp1 HG02273.hp2 HG03017.hp2 HG03209.hp1 HG03834.hp1 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18979.hp1 NA18999.hp2 NA19002.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0001 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0024 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0011g0182 a0001c0001t0014g0280	15	344	0.0436	-48	c.896 others(65): Show c.896+3627_896+3674delATATTATGTGTACATATTATGTATACAT AATATACATATAATATATAA		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7						chr1	TogoVar
CTTN_chr11_70393529_70441575	70411360	TGTGTTCA others(41): Show TGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	322	0.0031	-48	c.291 others(65): Show c.291+1449_291+1496delGTGTTCAGTGCAGCGAGCGAAGCGTGTG CACACGGACAGACGGAATCC		CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
CWC27_chr5_64763930_65023750	64796749	CTCCCTCC others(41): Show CTCCCTCCCTCCCTCCCTCCCTCCTTTTCCTTCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG03453.hp1 others(1): Show HG02055.hp2 HG02257.hp2 HG03453.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002	a0001c0005t0002g0100 a0002c0002t0001g0242 a0002c0002t0002g0030 others(1): Show a0001c0005t0002g0100 a0002c0002t0001g0242 a0002c0002t0002g0030 a0002c0002t0002g0107	4	260	0.0154	-48	c.670 others(65): Show c.670-3479_670-3432delCTCCTTTTCCTTCTTCCTTCCTTCCTTC TTCCCTCCCTCCCTCCCTCC		CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107442760	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp1 HG02895.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0318 a0001c0001t0006g0320 a0001c0001t0006g0318 a0001c0001t0006g0320	2	392	0.0051	-48	c.450 others(63): Show c.450+131_450+178delCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT		CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	4/17						chr11	TogoVar
CYB5R1_chr1_202956873_202972257	202961637	CCCTCTAA others(41): Show CCCTCTAATGTGTGTTCTCCTTCCCCCACCTCGAGAGCCTCCAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0055 a0002c0012t0001g0055	1	450	0.0022	-48	c.84 others(57): Show c.842_*889delTCTCCCTGGAGGCTCTCGAGGTGGGGGAAGGAGAAC ACACATTAGAGG		CYB5R1	ENSG00000159348.13	transcript	ENST00000367249.9	protein_coding					235		chr1	TogoVar
CYBC1_chr17_82437586_82455752	82443764	GGCCACGG others(41): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01243.hp2 others(28): Show HG00738.hp1 HG01081.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0002t0011	a0001c0001t0006g0015 a0001c0001t0006g0024 a0001c0001t0006g0041 others(18): Show a0001c0001t0006g0015 a0001c0001t0006g0024 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0083 a0001c0001t0007g0011 a0001c0001t0007g0019 a0001c0001t0007g0047 a0001c0001t0007g0055 a0001c0001t0008g0028 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0011g0032 a0001c0001t0011g0078 a0001c0001t0016g0061 a0001c0001t0016g0062 a0001c0001t0019g0057 a0001c0001t0024g0060 a0001c0002t0011g0080	31	416	0.0745	-48	c.19 others(57): Show c.192_*239delACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCAC AGGACCCGTGGC		CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7				192		chr17	TogoVar
CYBC1_chr17_82437586_82455752	82443913	CGGGTCCT others(41): Show CGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTGCCAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0058 a0001c0001t0025g0058	1	416	0.0024	-48	c.43 others(55): Show c.43_*90delATGGCACATTCCCGGTGTGCCTGAGCCCGTGCACCGCC CACAGGACCC		CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7				43		chr17	TogoVar
CYP11A1_chr15_74332762_74372646	74334473	ACCAGGGT others(41): Show ACCAGGGTTAGGGTTCAGTATACAACCAGGGTCAGGGTTCAGTGTGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02717.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02922.hp1 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0170 a0001c0001t0001g0177 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0200	6	380	0.0158	-48	c.34 others(59): Show c.3451_*3498delCTGCACACTGAACCCTGACCCTGGTTGTATACTG AACCCTAACCCTGG		CYP11A1	ENSG00000140459.18	transcript	ENST00000268053.11	protein_coding					3288		chr15	TogoVar
CYP11A1_chr15_74332762_74372646	74370609	CAGGCTCC others(41): Show CAGGCTCCATCTTCCTGCTTCACCACGAAGACATTTGGTTGGCATTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	380	0.0026	-48	c.-30 others(59): Show c.-3072_-3025delAGAAATGCCAACCAAATGTCTTCGTGGTGAAGCA GGAAGATGGAGCCT		CYP11A1	ENSG00000140459.18	transcript	ENST00000268053.11	protein_coding					2964		chr15	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(41): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01070.hp2 others(35): Show HG00140.hp2 HG00642.hp1 HG01070.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02293.hp1 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA19002.hp1 NA19054.hp2 NA19055.hp1 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0008 a0002c0038 others(4): Show a0001c0001 a0002c0008 a0002c0038 a0006c0010 a0006c0021 a0006c0022 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0008t0001 a0002c0038t0007 a0006c0010t0001 a0006c0021t0007 a0006c0022t0002 a0008c0007t0003	a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0002g0087 others(14): Show a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0113 a0001c0001t0005g0036 a0001c0001t0005g0089 a0001c0001t0006g0088 a0002c0008t0001g0061 a0002c0038t0007g0062 a0006c0010t0001g0202 a0006c0021t0007g0196 a0006c0022t0002g0054 a0008c0007t0003g0025	38	398	0.0955	-48	c.344 others(63): Show c.344-183_344-136delCTCTCTCTCTCTCCCTCGTGTTTCTCTGAC TGAGTTTGCACCTGTCCT		CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8						chr19	TogoVar
CYP39A1_chr6_46544580_46657818	46564090	TTTTATTT others(41): Show TTTTATTTTGTATTTTTTTTATTTTATTCTATTTTATTCTATTTTATTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0187 a0001c0001t0005g0273 a0001c0001t0003g0187 a0001c0001t0005g0273	2	310	0.0065	-48	c.125 others(69): Show c.1251-10284_1251-10237delGAATAAAATAGAATAAAATAGAAT AAAATAAAAAAAATACAAAATAAA		CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	10/11						chr6	TogoVar
CYP7B1_chr8_64585851_64803737	64685875	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0102 a0001c0001t0060g0102	1	258	0.0039	-48	c.123 others(67): Show c.123-61384_123-61337delACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCC		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5						chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686406	GGGGGGTC others(41): Show GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0112 a0001c0001t0012g0112	1	258	0.0039	-48	c.123 others(67): Show c.123-61915_123-61868delAACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCC		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5						chr8	TogoVar
CYTH1_chr17_78669048_78787273	78760384	TACACACA others(41): Show TACACACACATACATATATATATGTGTATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18998.hp1 NA18942.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0044 a0001c0001t0005g0002 a0001c0001t0005g0044	2	378	0.0053	-48	c.22+ others(65): Show c.22+21770_22+21817delGTATGTGTATATATATATATATACACAT ATATATATGTATGTGTGTGT		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13						chr17	TogoVar
DACT2_chr6_168301904_168324777	168321859	TCCTCTCC others(41): Show TCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01358.hp1 others(15): Show HG00639.hp2 HG01069.hp1 HG01358.hp1 HG02074.hp2 HG02155.hp1 HG02165.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 NA18940.hp2 NA18961.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0025 a0002c0003 others(3): Show a0001c0001 a0001c0025 a0002c0003 a0002c0009 a0003c0004 a0005c0007	a0001c0001t0002 a0001c0025t0002 a0002c0003t0003 others(4): Show a0001c0001t0002 a0001c0025t0002 a0002c0003t0003 a0002c0003t0010 a0002c0009t0007 a0003c0004t0004 a0005c0007t0004	a0001c0001t0002g0127 a0001c0001t0002g0155 a0001c0001t0002g0161 others(12): Show a0001c0001t0002g0127 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0183 a0001c0025t0002g0158 a0002c0003t0003g0043 a0002c0003t0003g0168 a0002c0003t0003g0170 a0002c0003t0010g0136 a0002c0009t0007g0171 a0003c0004t0004g0041 a0003c0004t0004g0147 a0003c0004t0004g0173 a0005c0007t0004g0038 a0005c0007t0004g0131	18	476	0.0378	-48	c.-22 others(59): Show c.-2274_-2227delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAGG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2083		chr6	TogoVar
DCAF13_chr8_103410386_103448453	103447847	TACACACA others(41): Show TACACACACACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02129.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0008 a0002c0002 a0002c0003 a0003c0008	a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0003c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 others(79): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0003g0018 a0002c0003t0001g0051 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0003c0008t0001g0002	110	342	0.3216	-48	c.49 others(59): Show c.4966_*5013delACACACACACACACACACACACACACACACACAC ACACACACACACAC		DCAF13	ENSG00000164934.15	transcript	ENST00000612750.5	protein_coding					4395		chr8	TogoVar
DCBLD2_chr3_98790941_98906695	98837192	GGGGGCCG others(41): Show GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02602.hp1 HG02738.hp2 others(4): Show HG00621.hp1 HG02602.hp1 HG02738.hp2 HG03831.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0207 others(4): Show a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0261	7	330	0.0212	-48	c.572 others(67): Show c.572-11874_572-11827delTGCCCGGCCAGCCACCCCGTCCGGGA GGGAGGTGGGGGTGTCGGCCCC		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837202	ACCCCCAC others(41): Show ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	330	0.0030	-48	c.572 others(67): Show c.572-11884_572-11837delGTCGGCCCCCTGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGG		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837252	CCCCCACC others(41): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0324 a0006c0022t0001g0324	1	330	0.0030	-48	c.572 others(67): Show c.572-11934_572-11887delTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGG		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCC_chr18_52335197_53540899	53047264	ATATATAT others(41): Show ATATATATATATATATATATATATAATTTTATATATATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03209.hp2 HG03225.hp1 HG00738.hp2 HG03209.hp2 HG03225.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0004 a0006c0019 a0001c0002 a0002c0004 a0006c0019	a0001c0002t0001 a0002c0004t0003 a0006c0019t0005 a0001c0002t0001 a0002c0004t0003 a0006c0019t0005	a0001c0002t0001g0029 a0002c0004t0003g0023 a0006c0019t0005g0014 a0001c0002t0001g0029 a0002c0004t0003g0023 a0006c0019t0005g0014	3	114	0.0263	-48	c.986 others(67): Show c.986-16028_986-15981delTATATATATATAATTTTATATATATA TATATAATTTTATATATATATA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53086039	TCTCCCTC others(41): Show TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	114	0.0088	-48	c.126 others(69): Show c.1261+19878_1261+19925delCTCTCCTTCTCCTTCTCCTTCTCC CTCTCCTCCTCCTCCTCCTCCTCC		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53086063	TCTCCCTC others(41): Show TCTCCCTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0089 a0002c0001t0002g0089	1	114	0.0088	-48	c.126 others(69): Show c.1261+19902_1261+19949delCTCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCC		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351426	GTATATAT others(41): Show GTATATATATATACAGTGTATATATATATATACACAGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01433.hp2 others(6): Show HG00673.hp2 HG01106.hp1 HG01433.hp2 HG02809.hp1 HG03017.hp2 HG03669.hp2 HG04228.hp2 NA18971.hp1 NA18982.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0017 a0001c0003 a0009c0017	a0001c0003t0004 a0001c0003t0012 a0001c0003t0020 others(2): Show a0001c0003t0004 a0001c0003t0012 a0001c0003t0020 a0001c0003t0030 a0009c0017t0004	a0001c0003t0004g0008 a0001c0003t0004g0057 a0001c0003t0004g0061 others(6): Show a0001c0003t0004g0008 a0001c0003t0004g0057 a0001c0003t0004g0061 a0001c0003t0004g0092 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0020g0102 a0001c0003t0030g0020 a0009c0017t0004g0110	9	114	0.0790	-48	c.235 others(69): Show c.2359+11532_2359+11579delCAGTGTATATATATATATACACAG TGTGTATATATATATATATATATA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCX_chrX_111288779_111417192	111416570	ACTCTCGC others(41): Show ACTCTCGCTCTCTTGTTCTCTCGCTCTCTTGTTCTCTCGCTCTCTTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	183	0.0055	-48	c.-45 others(59): Show c.-4503_-4456delAACAAGAGAGCGAGAGAACAAGAGAGCGAGAGAA CAAGAGAGCGAGAG		DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding					4379		chrX	TogoVar
DDA1_chr19_17304563_17328298	17315273	GTATATAC others(41): Show GTATATACACACACTATATATATACACACGTGTATATATATACACGCTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(63): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18973.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027	a0001c0001t0004g0173 a0001c0001t0004g0199 a0001c0001t0004g0229 others(41): Show a0001c0001t0004g0173 a0001c0001t0004g0199 a0001c0001t0004g0229 a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0208 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0248 a0001c0001t0007g0012 a0001c0001t0007g0047 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0007g0246 a0001c0001t0012g0051 a0001c0001t0013g0218 a0001c0001t0013g0239 a0001c0001t0024g0195 a0001c0001t0026g0191 a0001c0001t0027g0183	66	388	0.1701	-48	c.137 others(63): Show c.137-654_137-607delCACACACTATATATATACACACGTGTATAT ATATACACGCTATATATA		DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315280	CACACACT others(41): Show CACACACTATATATATACACACGTGTATATATATACACGCTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02258.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02258.hp2 HG03139.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0084 a0001c0001t0004g0085 others(2): Show a0001c0001t0004g0053 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0205 a0001c0001t0004g0213	6	388	0.0155	-48	c.137 others(63): Show c.137-647_137-600delTATATATATACACACGTGTATATATATACA CGCTATATATATACACAC		DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315304	GTATATAT others(41): Show GTATATATATACACGCTATATATATACACACGTATATATATACACGCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00741.hp2 others(39): Show HG00140.hp1 HG00280.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01433.hp2 HG01978.hp2 HG02027.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18940.hp2 NA18952.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18974.hp2 NA19062.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021	a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0013 others(20): Show a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0019g0068 a0001c0001t0020g0002 a0001c0001t0021g0065	42	388	0.1083	-48	c.137 others(63): Show c.137-621_137-574delTACACGCTATATATATACACACGTATATAT ATACACGCTATATATATA		DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDC_chr7_50453442_50570405	50460210	AGCCGCCC others(41): Show AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCTGGCCCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	2	360	0.0056	-48	c.19 others(65): Show c.19-1415_*19-1368delAGGCTGGGCCAGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGC		DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14						chr7	TogoVar
DDX28_chr16_68015916_68028232	68020799	ACATATAT others(41): Show ACATATATATATATACGTATATATATGTATGTGTATATATATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp1 NA19240.hp1 HG03041.hp2 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	390	0.0077	-48	c.73 others(57): Show c.733_*780delCGTATATATATATATACACATACATATATATACGTA TATATATATATG		DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding					116		chr16	TogoVar
DEAF1_chr11_639233_700222	640056	TCCCCGGG others(41): Show TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	345	0.0029	-48	c.44 others(59): Show c.4446_*4493delGAGGCTGGGCGCGGCGGGCGCACAGTCGGGGCCG CAGGGACCCCGGGG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					4176		chr11	TogoVar
DEAF1_chr11_639233_700222	640065	TCCCTGCG others(41): Show TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 NA18961.hp2 NA19091.hp2 HG01346.hp2 NA18961.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0065 a0001c0001t0001g0114 a0001c0003t0001g0145 a0001c0001t0001g0065 a0001c0001t0001g0114 a0001c0003t0001g0145	3	345	0.0087	-48	c.44 others(59): Show c.4437_*4484delGTCCTGGGGGAGGCTGGGCGCGGCGGGCGCACAG TCGGGGCCGCAGGG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					4167		chr11	TogoVar
DEFB124_chr20_31460471_31480127	31471316	CCCCCCCC others(41): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01192.hp1 others(14): Show HG00323.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG02074.hp1 HG02300.hp2 HG02523.hp2 HG03139.hp2 HG04199.hp2 NA18942.hp2 NA18943.hp2 NA18964.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0166 others(11): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0026 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0143 a0001c0001t0002g0144	17	362	0.0470	-48	c.58+ others(63): Show c.58+1592_58+1639delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGG		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEPDC1B_chr5_60591912_60705166	60668110	TTTATATA others(41): Show TTTATATATATATATAAAATGGATATTTTATATATATATAAAATGGATA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	292	0.0034	-48	c.314 others(67): Show c.314+18804_314+18851delTATCCATTTTATATATATATAAAATA TCCATTTTATATATATATATAA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(41): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01346.hp2 HG00544.hp1 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0191 a0001c0002t0023g0120 a0001c0002t0001g0191 a0001c0002t0023g0120	2	316	0.0063	-48	c.260 others(67): Show c.2601+1004_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKK_chrX_50360409_50475825	50447335	TATATATA others(41): Show TATATATATTATATATATATATAATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01169.hp2 others(5): Show HG00733.hp2 HG01168.hp2 HG01169.hp2 HG02486.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp2 NA19070.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0004c0007	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0002c0004t0001 a0004c0007t0004	a0001c0002t0001g0197 a0001c0002t0002g0149 a0001c0003t0001g0133 others(5): Show a0001c0002t0001g0197 a0001c0002t0002g0149 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0005g0147 a0001c0003t0005g0151 a0002c0004t0001g0187 a0004c0007t0004g0230	8	248	0.0323	-48	c.645 others(67): Show c.645+22651_645+22698delTATATATATATATAATATATATATAT TATATATATATATAATATATAT		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27						chrX	TogoVar
DHODH_chr16_72003744_72032659	72021454	CCAGAGTC others(41): Show CCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0178 a0007c0007t0004g0178	1	414	0.0024	-48	c.705 others(63): Show c.705+144_705+191delCAGAGTCCCCTCTGATCCCCTCTCATGACA CTGATTATATGCGACGGT		DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	5/8						chr16	TogoVar
DHRS12_chr13_51762993_51809163	51775817	TCTCCTAC others(41): Show TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG02145.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	420	0.0048	-48	c.363 others(65): Show c.363+1195_363+1242delGAGAATACTGTAGGAGAATACTGTAGGA GAATACATGTACTGTAGGAG		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776117	TGTATTCT others(41): Show TGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp1 HG02647.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0161 a0001c0001t0004g0021 a0001c0001t0001g0161 a0001c0001t0004g0021	2	420	0.0048	-48	c.363 others(63): Show c.363+895_363+942delTGTAGAATACATGTAGGAGAATACATGTAG GAGAATACTGTAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS13_chr17_28892781_28908079	28906879	ACAATACT others(41): Show ACAATACTGCTTGGGGGGGTTGGCGGGGTCTTCTCCGAGAAGTCACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-48	c.-39 others(59): Show c.-3983_-3936delCATGTGACTTCTCGGAGAAGACCCCGCCAACCCC CCCAAGCAGTATTG		DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding					3801		chr17	TogoVar
DHRS9_chr2_169064563_169101167	169079967	GAGAGAGA others(41): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19057.hp1 NA18962.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0051 a0001c0002t0002g0045 a0001c0002t0002g0051	2	398	0.0050	-48	c.-59 others(65): Show c.-59-1552_-59-1505delGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2485719	AGAAGGAA others(41): Show AGAAGGAAGGGAGAAAAGGGAGAGAAGGGAGGGAAGGAAGGGAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02717.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0005 a0004c0004 others(1): Show a0001c0001 a0002c0005 a0004c0004 a0006c0013	a0001c0001t0001 a0002c0005t0008 a0004c0004t0005 others(1): Show a0001c0001t0001 a0002c0005t0008 a0004c0004t0005 a0006c0013t0015	a0001c0001t0001g0003 a0002c0005t0008g0010 a0004c0004t0005g0009 others(1): Show a0001c0001t0001g0003 a0002c0005t0008g0010 a0004c0004t0005g0009 a0006c0013t0015g0011	4	50	0.0800	-48	c.109 others(67): Show c.109+15050_109+15097delCTTCTCTCCCTTCCTTCCCTCCCTTC TCTCCCTTTTCTCCCTTCCTTC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6						chrX	TogoVar
DIAPH1_chr5_141510021_141624000	141553269	GTGACAGG others(41): Show GTGACAGGCTGTCTTTTTTTTTTGACCCTGTCTCAAAAAAACAACTTAA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0271 a0002c0004t0001g0271	1	336	0.0030	-48	c.248 others(69): Show c.2482+18111_2482+18158delTTAAGTTGTTTTTTTGAGACAGGG TCAAAAAAAAAAGACAGCCTGTCA		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	18/27						chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96962448	TACACACA others(41): Show TACACACACATATATATATACATATATATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0006 a0001c0001t0002g0004 a0001c0001t0003g0006	2	147	0.0136	-48	c.193 others(67): Show c.1936-2643_1936-2596delCACACACATATATATATACATATATA TATACACACACACACACACACA		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26					INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579638	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0090 a0001c0001t0010g0090	1	284	0.0035	-48	c.101 others(67): Show c.101-46336_101-46289delAAAAAATATATATATATATATATATA TATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar

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