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	119074981	AAAAGTGG others(31): Show AAAAGTGGGATGAAGAGGCCCAAGATGCTGCAGGCAAGG	A A	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0001 a0012c0016t0001g0001	1	310	0.0032	-38	c.878 others(45): Show c.878_915delAGTGGGATGAAGAGGCCCAAGATGCTGCAGGCAAGGAA	p.Lys others(5): Show p.Lys293fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	2/3	1111/1772	878/975	293/324		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTDP1_chr18_79674803_79759503	79691505	TGGGGAGG others(31): Show TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG02145.hp1 HG03453.hp2	a0001 a0001	a0001c0014 a0001c0037 a0001c0014 a0001c0037	a0001c0014t0001 a0001c0037t0001 a0001c0014t0001 a0001c0037t0001	a0001c0014t0001g0078 a0001c0037t0001g0079 a0001c0014t0001g0078 a0001c0037t0001g0079	2	378	0.0053	-38	c.315 others(55): Show c.315-3640_315-3603delGAGGAGTGGACGGCTCCCAGGGTGGACT CGGGGTGGGG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691875	CGGGGTGG others(31): Show CGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp1 HG02615.hp2 HG03195.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0032 a0002c0002 a0011c0032	a0002c0002t0001 a0011c0032t0001 a0002c0002t0001 a0011c0032t0001	a0002c0002t0001g0329 a0011c0032t0001g0083 a0002c0002t0001g0329 a0011c0032t0001g0083	2	378	0.0053	-38	c.315 others(55): Show c.315-3312_315-3275delTGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79693877	ACAGACCC others(31): Show ACAGACCCGCCCCTCCGCTCCCCTGCAGGATGCAGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02647.hp1 others(2): Show HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02896.hp2 HG03130.hp2	a0005 a0005	a0005c0011 a0005c0015 a0005c0011 a0005c0015	a0005c0011t0005 a0005c0015t0005 a0005c0011t0005 a0005c0015t0005	a0005c0011t0005g0367 a0005c0011t0005g0368 a0005c0011t0005g0370 others(2): Show a0005c0011t0005g0367 a0005c0011t0005g0368 a0005c0011t0005g0370 a0005c0015t0005g0366 a0005c0015t0005g0369	5	378	0.0132	-38	c.315 others(55): Show c.315-1332_315-1295delGCTCCCCTGCAGGATGCAGGCTGCAGAC CCGCCCCTCC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79700232	TTTAAATC others(31): Show TTTAAATCAAAAGGTAGACGTGATTATGCTTAGTGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0203 a0001c0008t0001g0203	1	378	0.0027	-38	c.621 others(55): Show c.621+2245_621+2282delTTAAATCAAAAGGTAGACGTGATTATGC TTAGTGAGGA		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	4/12						chr18	TogoVar
CTDP1_chr18_79674803_79759503	79726994	GTTGCTGG others(31): Show GTTGCTGGTGGACAGCTGTGGGGTATGGGGGTGACGCCC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0001 a0005c0024t0001	a0005c0024t0001g0371 a0005c0024t0001g0371	1	378	0.0027	-38	c.241 others(57): Show c.2418-1900_2418-1863delAGCTGTGGGGTATGGGGGTGACGCCC TTGCTGGTGGAC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA2_chr2_79508051_80653780	79508955	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	68	0.0147	-38	c.-42 others(49): Show c.-4257_-4220delTATATATATATATATATATATATATATATATATA TATA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding					4095		chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66346228	TATATATA others(31): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19080.hp1 HG03579.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0013 a0002c0002t0013g0026 a0002c0002t0002g0013 a0002c0002t0013g0026	2	46	0.0435	-38	c.173 others(59): Show c.1732+32886_1732+32923delCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17						chr10	TogoVar
CTNND2_chr5_10966836_11909446	10994373	GGGGCCGG others(31): Show GGGGCCGGGGAAAGAGGAGGGGGGCGGGGAACGAGGAAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG00738.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0023 a0001c0007t0001g0002 a0001c0001t0001g0023 a0001c0007t0001g0002	2	26	0.0769	-38	c.308 others(57): Show c.3085-1734_3085-1697delGTTCCTCGTTCCCCGCCCCCCTCCTC TTTCCCCGGCCC		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	18/21						chr5	TogoVar
CTNND2_chr5_10966836_11909446	11817410	GGAGAGAG others(31): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	26	0.0385	-38	c.38- others(55): Show c.38-85176_38-85139delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTSS_chr1_150725188_150770778	150744513	TTATATGT others(31): Show TTATATGTATATTATGTATACATAATATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	344	0.0029	-38	c.896 others(55): Show c.896+3226_896+3263delTAATATATAATATATTATGTATACATAA TATACATATA		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7						chr1	TogoVar
CTSS_chr1_150725188_150770778	150761329	GGAAAACA others(31): Show GGAAAACAATTCTATTTACAACAGCATTTAAAACATATT	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	344	0.0029	-38	c.126 others(55): Show c.126+3271_126+3308delAATATGTTTTAAATGCTGTTGTAAATAG AATTGTTTTC		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	2/7						chr1	TogoVar
CUX1_chr7_101811007_102288958	101939058	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp1 NA18906.hp2 HG03195.hp2 HG03486.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0001 a0003c0012t0005 a0001c0002t0001 a0003c0012t0005	a0001c0002t0001g0077 a0001c0002t0001g0078 a0003c0012t0005g0079 a0001c0002t0001g0077 a0001c0002t0001g0078 a0003c0012t0005g0079	3	132	0.0227	-38	c.174 others(57): Show c.174+22852_174+22889delATATATATATATATATATATATATAT ATATATATATAT		CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	101939058	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 NA18906.hp2 HG03195.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020	a0001c0001t0003g0047 a0001c0001t0010g0045 a0001c0001t0020g0044 a0001c0001t0003g0047 a0001c0001t0010g0045 a0001c0001t0020g0044	3	136	0.0221	-38	c.141 others(57): Show c.141+22852_141+22889delATATATATATATATATATATATATAT ATATATATATAT		CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111330686	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp2 HG02055.hp1 others(4): Show HG01069.hp2 HG01884.hp2 HG02055.hp1 HG02486.hp2 HG02698.hp2 HG02809.hp1 HG02970.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0002c0006 a0003c0016	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0006t0001 a0003c0016t0001	a0001c0002t0001g0066 a0001c0003t0001g0014 a0001c0003t0001g0088 others(4): Show a0001c0002t0001g0066 a0001c0003t0001g0014 a0001c0003t0001g0088 a0001c0005t0001g0038 a0001c0005t0001g0039 a0002c0006t0001g0053 a0003c0016t0001g0068	7	100	0.0700	-38	c.292 others(57): Show c.2927-3727_2927-3690delTATATATATATATATATATATATATA TATATATATATA		CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
CWF19L1_chr10_100227298_100272638	100271843	AAAGTGAA others(31): Show AAAGTGAAGAGGCAACCCACAGAATGGAAGAAAATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0282 a0002c0003t0003g0282	1	364	0.0028	-38	c.-42 others(49): Show c.-4288_-4251delAAATATTTTCTTCCATTCTGTGGGTTGCCTCTTC ACTT		CWF19L1	ENSG00000095485.18	transcript	ENST00000354105.10	protein_coding					4206		chr10	TogoVar
CWF19L2_chr11_107321360_107462825	107460485	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01891.hp1 HG02165.hp2 others(9): Show HG00408.hp2 HG01891.hp1 HG02165.hp2 HG02572.hp1 HG02572.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp1 NA18983.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0003 a0001c0001 a0001c0011 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 a0003c0003t0002	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0241 others(9): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0314 a0001c0001t0006g0008 a0001c0001t0006g0318 a0001c0001t0006g0319 a0001c0001t0006g0320 a0001c0011t0001g0101 a0003c0003t0002g0033 a0003c0003t0002g0115	12	392	0.0306	-38	c.-27 others(49): Show c.-2707_-2670delTATATATATATATATATATATATATATATATATA TATA		CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding					2661		chr11	TogoVar
CYLD_chr16_50737086_50806935	50755006	CATATATA others(31): Show CATATATATGTATATATACATATATATGTATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG02895.hp2 others(4): Show HG01891.hp1 HG02717.hp2 HG02895.hp2 HG03130.hp1 HG03453.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0008 a0001c0003t0005g0242 a0001c0003t0005g0243 others(2): Show a0001c0003t0005g0008 a0001c0003t0005g0242 a0001c0003t0005g0243 a0001c0003t0005g0244 a0001c0003t0005g0260	7	302	0.0232	-38	c.913 others(53): Show c.913+589_913+626delATGTATATATACATATATATGTATATATAC ATATATAT		CYLD	ENSG00000083799.18	transcript	ENST00000427738.8	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP2A13_chr19_41083451_41101195	41089804	GTCTCTCT others(31): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0002 a0012c0021t0002	a0012c0021t0002g0078 a0012c0021t0002g0078	1	422	0.0024	-38	c.344 others(53): Show c.344-212_344-175delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC		CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2A13_chr19_41083451_41101195	41089837	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0065 a0003c0006t0001g0065	1	422	0.0024	-38	c.344 others(53): Show c.344-204_344-167delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC GTGCTCTC		CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(31): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18990.hp2 HG03579.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0105 a0001c0001t0001g0106 a0001c0001t0002g0105	2	398	0.0050	-38	c.344 others(53): Show c.344-173_344-136delCTCCCTCGTGTTTCTCTGACTGAGTTTGCA CCTGTCCT		CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8						chr19	TogoVar
CYP39A1_chr6_46544580_46657818	46564090	TTTTATTT others(31): Show TTTTATTTTGTATTTTTTTTATTTTATTCTATTTTATTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02280.hp1 others(23): Show HG01884.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0223 a0001c0001t0003g0188 a0001c0001t0003g0190 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172	26	310	0.0839	-38	c.125 others(59): Show c.1251-10274_1251-10237delGAATAAAATAGAATAAAATAAAAA AAATACAAAATAAA		CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	10/11						chr6	TogoVar
DACH1_chr13_71432966_71872204	71552766	CATATATA others(31): Show CATATATATATATATATATGGATGTGAATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	1	102	0.0098	-38	c.157 others(57): Show c.1570+4220_1570+4257delATATATATATATTCACATCCATATAT ATATATATATAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71552810	TATATATA others(31): Show TATATATATATATATATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0084 a0002c0010t0001g0084	1	102	0.0098	-38	c.157 others(57): Show c.1570+4176_1570+4213delCTCTCTATATATATATATATATATAT ATATATATATAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71552814	TATATATA others(31): Show TATATATATATATATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	102	0.0098	-38	c.157 others(57): Show c.1570+4172_1570+4209delCTCTCTCTCTATATATATATATATAT ATATATATATAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71552816	TATATATA others(31): Show TATATATATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	102	0.0098	-38	c.157 others(57): Show c.1570+4170_1570+4207delCTCTCTCTCTCTATATATATATATAT ATATATATATAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71735273	CGTATGTA others(31): Show CGTATGTATATGGGATATACACGTATACGGGATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(1): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG03486.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0003 a0001c0005 a0002c0002 a0003c0003	a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002	a0001c0005t0002g0043 a0002c0002t0001g0072 a0002c0002t0002g0073 others(1): Show a0001c0005t0002g0043 a0002c0002t0001g0072 a0002c0002t0002g0073 a0003c0003t0002g0002	4	102	0.0392	-38	c.849 others(57): Show c.849-53401_849-53364delACGTATATCCCGTATACGTGTATATC CCATATACATAC		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71816639	TATGTGTG others(31): Show TATGTGTGTATATATATACACGTGTATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	102	0.0098	-38	c.848 others(57): Show c.848+49245_848+49282delGTGTGTATATATATACACGTGTATAT ATATACACACAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACT3_chr19_46642551_46666182	46647663	CTGGCCCC others(31): Show CTGGCCCCCCTTTGCACTGGGGAGTCACCATCGTCATAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0086 a0001c0001t0011g0086	1	460	0.0022	-38	c.78 others(47): Show c.781_*818delTTATGACGATGGTGACTCCCCAGTGCAAAGGGGGGC CA		DACT3	ENSG00000197380.11	transcript	ENST00000391916.7	protein_coding	4/4				781		chr19	TogoVar
DAG1_chr3_49465267_49540615	49500053	TAGCCTCC others(31): Show TAGCCTCCGCTTCCCGGGTTCAAGCAATTTTCCTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0003c0004 a0005c0008 a0006c0014 a0007c0010 a0008c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0010 a0001c0005t0002 a0001c0007t0001 a0001c0012t0001 a0001c0013t0013 a0003c0004t0002 a0005c0008t0002 a0006c0014t0002 a0007c0010t0006 a0008c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0043 others(178): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0004g0082 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0007g0230 a0001c0001t0007g0231 a0001c0001t0008g0161 a0001c0001t0008g0180 a0001c0001t0011g0135 a0001c0001t0015g0062 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0042 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0010g0120 a0001c0002t0010g0121 a0001c0005t0002g0001 a0001c0005t0002g0052 a0001c0005t0002g0064 a0001c0005t0002g0065 a0001c0007t0001g0004 a0001c0012t0001g0185 a0001c0013t0013g0057 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0078 a0003c0004t0002g0080 a0005c0008t0002g0002 a0005c0008t0002g0127 a0006c0014t0002g0109 a0007c0010t0006g0059 a0008c0009t0001g0147	184	238	0.7731	-38	c.-11 others(59): Show c.-116-10320_-116-10283delGCTTCCCGGGTTCAAGCAATTTTC CTGTCTCAGCCTCC		DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
DAPL1_chr2_158790317_158820990	158791953	TTCTTTCT others(31): Show TTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	360	0.0028	-38	c.-34 others(49): Show c.-3419_-3382delTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC TCTC		DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding					3363		chr2	TogoVar
DCAF7_chr17_63545477_63599266	63559387	GTATATAT others(31): Show GTATATATATATGTATATATATGTATATATATACGTATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02809.hp1 others(6): Show HG02280.hp2 HG02630.hp2 HG02809.hp1 HG03139.hp1 HG03209.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0020 a0001c0001t0001g0209 a0001c0001t0006g0210 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0209 a0001c0001t0006g0210 a0001c0001t0006g0213 a0001c0001t0011g0208 a0001c0001t0011g0212 a0001c0001t0021g0207 a0001c0001t0023g0211	9	262	0.0344	-38	c.138 others(55): Show c.138+8580_138+8617delATATGTATATATATGTATATATATACGT ATATATATAT		DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DCC_chr18_52335197_53540899	53047274	ATATATAT others(31): Show ATATATATATATATAATTTTATATATATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG01106.hp2 others(6): Show HG00597.hp1 HG00642.hp2 HG01106.hp2 HG01257.hp1 HG03195.hp2 HG03831.hp1 HG04228.hp2 NA18971.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0002c0001	a0001c0002t0003 a0001c0002t0034 a0001c0003t0004 others(5): Show a0001c0002t0003 a0001c0002t0034 a0001c0003t0004 a0001c0003t0012 a0001c0003t0020 a0001c0005t0019 a0001c0010t0003 a0002c0001t0018	a0001c0002t0003g0059 a0001c0002t0034g0091 a0001c0003t0004g0052 others(6): Show a0001c0002t0003g0059 a0001c0002t0034g0091 a0001c0003t0004g0052 a0001c0003t0004g0077 a0001c0003t0012g0082 a0001c0003t0020g0102 a0001c0005t0019g0105 a0001c0010t0003g0096 a0002c0001t0018g0034	9	114	0.0790	-38	c.986 others(57): Show c.986-16018_986-15981delTAATTTTATATATATATATATAATTT TATATATATATA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53047457	ATATATAC others(31): Show ATATATACCATTTTTGCTATTGAGGAATCTTTTTTTTAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18982.hp2 HG03098.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0003t0004 a0001c0002t0008 a0001c0003t0004	a0001c0002t0008g0039 a0001c0003t0004g0061 a0001c0002t0008g0039 a0001c0003t0004g0061	2	114	0.0175	-38	c.986 others(57): Show c.986-15845_986-15808delTATACCATTTTTGCTATTGAGGAATC TTTTTTTTATTA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	30888125	AGAAAGAA others(31): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	152	0.0066	-38	c.508 others(57): Show c.5082+4655_5082+4692delCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	36/38						chr11	TogoVar
DCLK1_chr13_35763652_36136382	36074468	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(60): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01168.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02572.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18951.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19009.hp2 NA19057.hp1 NA19070.hp1 NA19070.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0018 a0002c0019 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0041 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0014 a0001c0005t0001 a0001c0005t0002 a0001c0006t0003 a0001c0006t0004 a0001c0006t0006 a0001c0007t0003 a0001c0007t0004 a0001c0008t0010 a0001c0008t0011 a0001c0009t0003 a0001c0013t0013 a0001c0018t0014 a0002c0019t0002 a0003c0015t0012	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0089 others(60): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0056 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0008g0215 a0001c0001t0012g0103 a0001c0001t0013g0178 a0001c0001t0021g0119 a0001c0001t0022g0076 a0001c0002t0002g0105 a0001c0002t0003g0115 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0102 a0001c0002t0004g0107 a0001c0002t0006g0074 a0001c0002t0006g0120 a0001c0002t0030g0125 a0001c0002t0031g0087 a0001c0002t0032g0118 a0001c0002t0041g0122 a0001c0003t0001g0010 a0001c0003t0001g0098 a0001c0003t0001g0101 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0001g0169 a0001c0003t0003g0093 a0001c0003t0004g0094 a0001c0003t0011g0054 a0001c0003t0013g0108 a0001c0004t0002g0071 a0001c0004t0002g0144 a0001c0004t0002g0145 a0001c0004t0003g0153 a0001c0004t0005g0210 a0001c0004t0014g0073 a0001c0005t0001g0165 a0001c0005t0002g0072 a0001c0006t0003g0070 a0001c0006t0003g0154 a0001c0006t0004g0069 a0001c0006t0006g0164 a0001c0007t0003g0113 a0001c0007t0004g0011 a0001c0008t0010g0111 a0001c0008t0011g0075 a0001c0009t0003g0166 a0001c0013t0013g0088 a0001c0018t0014g0123 a0002c0019t0002g0167 a0003c0015t0012g0109	63	230	0.2739	-38	c.723 others(57): Show c.723+37363_723+37400delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCTN5_chr16_23636466_23682472	23645107	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0254 a0001c0003t0031g0254	1	314	0.0032	-38	c.117 others(55): Show c.117+2086_117+2123delATATATATATATATATATATATATATAT ATTTTTTTTT		DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
DCT_chr13_94431811_94484682	94465968	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	336	0.0030	-38	c.697 others(53): Show c.697-207_697-170delTATATATATATATATATATATATATATATA TATATATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	3/7						chr13	TogoVar
DDB1_chr11_61294451_61338105	61330969	CATAACTG others(31): Show CATAACTGTAAATGCTTGCTATATGATAGGCCCTATGTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	180	0.0056	-38	c.210 others(53): Show c.210+536_210+573delAACATAGGGCCTATCATATAGCAAGCATTT ACAGTTAT		DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	2/26						chr11	TogoVar
DDX28_chr16_68015916_68028232	68020793	ATATATAC others(31): Show ATATATACATATATATATATACGTATATATATGTATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 others(2): Show HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0000 a0001c0005t0001g0000	5	390	0.0128	-38	c.74 others(47): Show c.749_*786delCACATACATATATATACGTATATATATATATGTATA TA		DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding					122		chr16	TogoVar
DDX31_chr9_132587997_132674983	132671384	CTGTGTGT others(31): Show CTGTGTGTGTCCTCCTCTCGCGCCTCTTTAGCTTCAGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	402	0.0025	-38	c.-14 others(49): Show c.-1488_-1451delTTCTGAAGCTAAAGAGGCGCGAGAGGAGGACACA CACA		DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding					1402		chr9	TogoVar
DDX51_chr12_132131594_132149319	132135378	TACCTCCC others(31): Show TACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0091 a0002c0005t0005g0091	1	334	0.0030	-38	c.38 others(49): Show c.3856_*3893delTAGCGGGCACCGTGGGCACACTCGGGGAGGTGGG AGGT		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1215		chr12	TogoVar
DDX60_chr4_168211294_168323752	168297344	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02698.hp1 HG02717.hp2 others(2): Show HG01099.hp2 HG02698.hp1 HG02717.hp2 HG03490.hp2 HG03492.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0011 a0001c0001 a0004c0005 a0005c0011	a0001c0001t0001 a0004c0005t0001 a0005c0011t0001 a0001c0001t0001 a0004c0005t0001 a0005c0011t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0004c0005t0001g0133 others(2): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0004c0005t0001g0133 a0004c0005t0001g0137 a0005c0011t0001g0125	5	270	0.0185	-38	c.724 others(55): Show c.724-3437_724-3400delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37						chr4	TogoVar
DEFB123_chr20_31435632_31455257	31450544	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	372	0.0027	-38	c.37 others(47): Show c.371_*408delTATATATATATATATATATATATATATTTTTTTTTT TT		DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding					288		chr20	TogoVar
DENND6B_chr22_50304030_50332012	50317007	GGGGCGGC others(31): Show GGGGCGGCGAGGACGGGGGGGGGGCGGCGAGGACAGGGC	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	326	0.0031	-38	c.453 others(53): Show c.453+248_453+285delGCCCTGTCCTCGCCGCCCCCCCCCCGTCCT CGCCGCCC		DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19						chr22	TogoVar
DET1_chr15_88507480_88551681	88526498	ATTTAGGG others(31): Show ATTTAGGGTGACCTAAGTGATTTGTAAAGGGACTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02647.hp1 others(4): Show HG02145.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0108 a0001c0001t0006g0045	7	402	0.0174	-38	c.127 others(57): Show c.1271+1063_1271+1100delCCTGGAGTCCCTTTACAAATCACTTA GGTCACCCTAAA		DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	3/4						chr15	TogoVar
DGKB_chr7_14140049_14907751	14719439	AGAAGCCA others(31): Show AGAAGCCACTGAAGTCAGATTGTGTGTATCTGACAAGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(66): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0008 others(4): Show a0001c0001 a0001c0004 a0001c0008 a0001c0013 a0001c0016 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0026 a0001c0004t0027 a0001c0008t0003 a0001c0013t0017 a0001c0016t0001 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(66): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0013t0017g0084 a0001c0016t0001g0039 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	69	148	0.4662	-38	c.323 others(53): Show c.323-792_323-755delGCCTTGTCAGATACACACAATCTGACTTCA GTGGCTTC		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	5/25						chr7	TogoVar
DHRS12_chr13_51762993_51809163	51774399	ATGTATTC others(31): Show ATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	420	0.0024	-38	c.364 others(53): Show c.364-403_364-366delATGTAGGAGAATACTGTAGGAGAATACTGT AGAATACA		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775072	AGTATTCT others(31): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	420	0.0024	-38	c.364 others(55): Show c.364-1076_364-1039delATGTAGGAGAATACTGTAGAATACATGT AGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776041	AGTATTCT others(31): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	420	0.0024	-38	c.363 others(54): Show c.363+981_363+1018delATGTAGGAGAATACTGTAGAATACATGTA GGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar

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