Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHM_chrX_85856180_86052558	85911190	T T	TATATATA others(203): Show TATATATATGAATATATATATATGAATATATATATGAATATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATCTGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATGAATATATATATAAATATATATATGAATATA TATATATATGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0221 a0001c0001t0007g0221	1	232	0.0043	210	c.124 others(225): Show c.1244+70_1244+71insTCATATATATATATATTCATATATATATTT ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCAGATATATTCATATATATATTCATATAT ATATTCATATATATATTCATATATATATATTCATATATATATATTCATAT ATATATTCATATATATATATTCATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911190	T T	TATATATA others(203): Show TATATATATGAATATATATATATGAATATATATATGAATATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATCTGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATGAATATATATATGAATATATATATGAATATA TATATATATGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	232	0.0043	210	c.124 others(225): Show c.1244+70_1244+71insTCATATATATATATATTCATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCAGATATATTCATATATATATTCATATAT ATATTCATATATATATTCATATATATATATTCATATATATATATTCATAT ATATATTCATATATATATATTCATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLPTM1L_chr5_1312752_1350099	1333458	T T	TGAGGATA others(203): Show TGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACA CCGGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGACAAG CGGGAACTACTGTATACACACCGGAAGAGGATAAGGGGGGACTACTGTAT ACACACCGCAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	353	0.0028	210	c.891 others(225): Show c.891+830_891+831insTTGCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCC CCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333643	G G	GACTACTG others(203): Show GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAG GACAAGCGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG00735.hp1 others(4): Show HG00438.hp1 HG00733.hp1 HG00735.hp1 HG01978.hp2 HG02615.hp2 HG03209.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0214 a0001c0001t0001g0239 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0214 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0003g0289 a0001c0001t0003g0290	7	340	0.0206	210	c.891 others(225): Show c.891+645_891+646insTCCCGCTTGTCCTCATCCGGTGTGTCTACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGT ATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(203): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTAT ACACACCGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00544.hp1 others(45): Show HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18948.hp2 NA18955.hp1 NA18979.hp2 NA18992.hp2 NA19000.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0004 a0001c0001t0001 a0001c0002t0001 a0002c0003t0004	a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 others(40): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0192 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0002t0001g0007 a0001c0002t0001g0286 a0001c0002t0001g0287 a0002c0003t0004g0196 a0002c0003t0004g0197 a0002c0003t0004g0198 a0002c0003t0004g0199	48	102	0.4706	210	c.891 others(225): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCC GTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNBD1_chr8_86861415_87387859	87136772	T T	TATTTATA others(203): Show TATTTATATTATATATAAATATATATATTTATATTATATTTATATTATAT ATAAATATATATATTTATATTATATATAAATATATATATTTATATTATAT ATAAATATATATATTTATATTATATATAAATATATATATTTATATATATA TAAATATATATATTTATATTATATATAAATATATATATTTATATTATATA TAAATTATATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	148	0.0068	210	c.432 others(229): Show c.432-69202_432-69201insATATATATTTATATTATATTTATATT ATATATAAATATATATATTTATATTATATATAAATATATATATTTATATT ATATATAAATATATATATTTATATTATATATAAATATATATATTTATATA TATATAAATATATATATTTATATTATATATAAATATATATATTTATATTA TATATAAATTATATAATTTATATTATATATAAAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(203): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	68	0.0147	210	c.-42 others(221): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(203): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0078 a0004c0078	a0004c0078t0001 a0004c0078t0001	a0004c0078t0001g0070 a0004c0078t0001g0070	1	294	0.0034	210	c.85- others(227): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481040	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCATTGCTGG AGACACACTGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02135.hp1 NA18612.hp2 others(1): Show HG00323.hp2 HG02135.hp1 NA18612.hp2 NA18963.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0001c0008 a0002c0017 others(1): Show a0001c0005 a0001c0008 a0002c0017 a0004c0009	a0001c0005t0001 a0001c0008t0003 a0002c0017t0002 others(1): Show a0001c0005t0001 a0001c0008t0003 a0002c0017t0002 a0004c0009t0001	a0001c0005t0001g0102 a0001c0008t0003g0081 a0002c0017t0002g0317 others(1): Show a0001c0005t0001g0102 a0001c0008t0003g0081 a0002c0017t0002g0317 a0004c0009t0001g0111	4	347	0.0115	210	c.275 others(227): Show c.2758+661_2758+662insGTTGCTGGAGACACACTGCTCTGTCCCT CCATTGCTGGAGACACACTGTTCTGTCCCTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481100	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCATTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0084 a0002c0006t0003g0084	1	331	0.0030	210	c.275 others(227): Show c.2758+717_2758+718insCTCCATTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481100	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG02155.hp2 others(2): Show HG00544.hp2 HG01069.hp1 HG02155.hp2 NA19007.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0017 a0002c0092 a0001c0004 a0002c0017 a0002c0092	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(2): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0002c0017t0002 a0002c0092t0001	a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0140 others(2): Show a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0140 a0002c0017t0002g0301 a0002c0092t0001g0231	5	335	0.0149	210	c.275 others(227): Show c.2758+717_2758+718insCTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481130	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	325	0.0031	210	c.275 others(227): Show c.2758+751_2758+752insGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45988211	G G	GGGGTCCA others(203): Show GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG TCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATG GAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01943.hp1 others(3): Show HG00642.hp1 HG00733.hp1 HG01943.hp1 HG01943.hp2 HG02602.hp1 HG03927.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0028 a0002c0002 a0003c0028	a0002c0002t0001 a0002c0002t0008 a0003c0028t0001 a0002c0002t0001 a0002c0002t0008 a0003c0028t0001	a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0078 others(3): Show a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0078 a0002c0002t0001g0127 a0002c0002t0008g0057 a0003c0028t0001g0053	6	121	0.0496	210	c.804 others(225): Show c.804+560_804+561insTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGA GGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGG GACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGAC GGCGGGGGTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988350	G G	GGGGTCCA others(203): Show GGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATG GAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	121	0.0083	210	c.804 others(225): Show c.804+698_804+699insGTCCAGATGGAGGGGACGGCGGGGCTCCAG ATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAG GGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA TGTCGGGGCTCCAGATGGAGGGGACGGCGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129676	A A	ATATATAT others(203): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTATGTAATATACATTAGTATATATACTATATACTATGTA ATATACATTAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp1 NA18977.hp1 others(3): Show HG03654.hp1 HG03942.hp1 NA18977.hp1 NA19000.hp2 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0082 a0001c0001t0001g0267 a0001c0001t0001g0271 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0007g0282	6	326	0.0184	210	c.400 others(227): Show c.400-4374_400-4373insATGTAATATACATTAGTATATATATACT ATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAA TATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATA TATATACTATATACTATGTAATATACATTAGTATATATACTATATACTAT GTAATATACATTAGTATATATACTATATACTA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(203): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCTGCCCCCGCCCCCGCC CCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0154 a0001c0007t0006g0154	1	117	0.0085	210	c.927 others(225): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCTGCCCC CGCCCCCGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923587	A A	AACCCGGC others(203): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp2 HG02109.hp1 others(3): Show HG01109.hp1 HG01981.hp2 HG02109.hp1 HG03710.hp1 HG04228.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0256 a0001c0001t0002g0336 a0001c0001t0003g0076 others(3): Show a0001c0001t0002g0256 a0001c0001t0002g0336 a0001c0001t0003g0076 a0002c0002t0001g0236 a0002c0002t0002g0309 a0002c0002t0002g0324	6	334	0.0180	210	c.488 others(225): Show c.488+946_488+947insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923638	A A	AACCCGGC others(203): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0302 a0008c0008t0002g0302	1	314	0.0032	210	c.488 others(225): Show c.488+997_488+998insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923655	A A	AACCCGGC others(203): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02572.hp2 HG02723.hp2	a0022 a0039 a0022 a0039	a0022c0091 a0039c0090 a0022c0091 a0039c0090	a0022c0091t0001 a0039c0090t0001 a0022c0091t0001 a0039c0090t0001	a0022c0091t0001g0156 a0039c0090t0001g0144 a0022c0091t0001g0156 a0039c0090t0001g0144	2	284	0.0070	210	c.488 others(227): Show c.488+1014_488+1015insGGCCCCCCACACTAACCCAGTCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCC ACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCC CCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461482	G G	GGACCTAT others(203): Show GGACCTATCCACACAGCAGCCACATTCACCATGGGGGCTGTATCCGCACA GCACACACATTCACCGTGGAGGGCGTATCCGCACAGCGGCCACATTCACC ATGGAGGGCCTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	235	0.0043	210	c.635 others(227): Show c.635-2841_635-2840insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATAGGCCCTCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCTCCACGGTGAATGTGTGTGCTGTGCGGATACAGCCCC CATGGTGAATGTGGCTGCTGTGTGGATAGGTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(203): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCAT GGAGGGCCTATCCGCACAGCAGCCACATTCACCATGGAGGGCCTATCCGC ACAGCGGCCACATTCACCATGGGGGGCGTATCCACACAGCGGCCACATTC ACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTA TCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0047	1	151	0.0066	210	c.635 others(227): Show c.635-2858_635-2857insCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGT GGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATAGGCCCTCCAT GGTGAATGTGGCTGCTGTGCGGATAGGCCCTCCATGGTGAATGTGGCCGC TGTGCGGATACGCCCCCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411981	C C	CCTATACA others(203): Show CCTATACATGCACGTAAATATGCACCTATATATGCACGTATATATGCACG TATATATGCACACGTATATATGCACGTATATATGCACACGTATATATGCA CGTATATATGCACGTATATATGCACGTATATATGCACACGTATATATGCA CACGTATATATGCATACGTATATATGCACGTATATATGCATACGTATATA TGCACGTATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02683.hp2 HG01261.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0108 a0002c0037 a0001c0108 a0002c0037	a0001c0108t0054 a0002c0037t0009 a0001c0108t0054 a0002c0037t0009	a0001c0108t0054g0074 a0002c0037t0009g0046 a0001c0108t0054g0074 a0002c0037t0009g0046	2	125	0.0160	210	c.156 others(229): Show c.1562-2377_1562-2376insATATACGTGCATATATACGTATGCAT ATATACGTGCATATATACGTATGCATATATACGTGTGCATATATACGTGT GCATATATACGTGCATATATACGTGCATATATACGTGCATATATACGTGT GCATATATACGTGCATATATACGTGTGCATATATACGTGCATATATACGT GCATATATAGGTGCATATTTACGTGCATGTATAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTBP1_chr4_1206445_1254130	1236695	A A	ACAGGGCA others(203): Show ACAGGGCAAACCAAGTGTCCACCTCCTGATGGGGCACAGGGCAAACCAAG TGTCCACCTCCTGATGGGGCTCAGGACAAACCCGGTGTCCACCTCCTGAT GGGGCTCAGGGCAAACCGAATGTCCACCTCCTGATGGGGCTCAGGACAAA CCCGGTGTCCACCTCCTGATGGGGCTCAGGGAAAACCAAATGTCCACCTC CTGATGGGGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	278	0.0036	210	c.162 others(227): Show c.162+1487_162+1488insAGCCCCATCAGGAGGTGGACATTTGGTT TTCCCTGAGCCCCATCAGGAGGTGGACACCGGGTTTGTCCTGAGCCCCAT CAGGAGGTGGACATTCGGTTTGCCCTGAGCCCCATCAGGAGGTGGACACC GGGTTTGTCCTGAGCCCCATCAGGAGGTGGACACTTGGTTTGCCCTGTGC CCCATCAGGAGGTGGACACTTGGTTTGCCCTG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1236695	A A	ACAGGGCA others(203): Show ACAGGGCAAACCAAGTGTCCACCTCCTGATGGGGCACAGGGCAAACCAAG TGTCCACCTCCTGATGGGGCTCAGGACAAACCCGGTGTCCACCTCCTGAT GGGGCTCAGGGCAAACCGAATGTCCACCTCCTGATGGGGCTCAGGACAAA CCCGGTGTCCACCTCCTGATGGGGCTCAGGGCAAACCAAATGTCCACCTC CTGATGGGGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(138): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(111): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0002g0273 a0001c0001t0002g0311 a0001c0001t0008g0271 a0001c0001t0008g0276 a0001c0001t0010g0082 a0001c0001t0010g0094 a0001c0001t0012g0048 a0001c0001t0015g0316 a0001c0001t0022g0337 a0001c0005t0001g0013 a0001c0010t0001g0105	141	418	0.3373	210	c.162 others(227): Show c.162+1487_162+1488insAGCCCCATCAGGAGGTGGACATTTGGTT TGCCCTGAGCCCCATCAGGAGGTGGACACCGGGTTTGTCCTGAGCCCCAT CAGGAGGTGGACATTCGGTTTGCCCTGAGCCCCATCAGGAGGTGGACACC GGGTTTGTCCTGAGCCCCATCAGGAGGTGGACACTTGGTTTGCCCTGTGC CCCATCAGGAGGTGGACACTTGGTTTGCCCTG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTDP1_chr18_79674803_79759503	79752746	C C	GGCTGGTT others(203): Show GGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTT ATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAG GCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAA GGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCC TAGTGGCACCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0304 a0004c0004t0001g0304	1	323	0.0031	210	c.274 others(227): Show c.2748-907_2748-906insGGCTGGTTATGCAGAGGCTCGTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGT GGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGG CTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTAT GCAGAGGCTCCTAAGGAAAGCCTAGTGGCACC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12			chr18	TogoVar
CUX2_chr12_111029165_111355554	111326378	T T	TGTGATGG others(203): Show TGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTATTTATAGTGTTGTGGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTT ATAGTGTTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0035 a0001c0009t0001g0031 a0001c0009t0001g0035	2	28	0.0714	210	c.292 others(229): Show c.2926+3801_2926+3802insATGGGGAGGGGTTGGTTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGA GGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTATTT ATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGG GGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP4F3_chr19_15635897_15667825	15650776	G G	GTTCTTTC others(203): Show GTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTCTCTCTTCTC TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTTCCTTCCT TCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTT CTTTCTTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0033 a0001c0005t0033	a0001c0005t0033g0049 a0001c0005t0033g0049	1	377	0.0027	210	c.918 others(225): Show c.918+614_918+615insCTTTCTTTCTTTCTTTCTCTCTCTTCTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTC CATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTCT TTCTTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269075	T T	TTATATAT others(203): Show TTATATATATTATATAATATATATAATATATATATTATATATAATATATA ATATATTATTATATATATTATAAATTATATAATATATATAATATATATAT TATATATAATATATTATATATTATATAATATATAATATATATAATATATA ATATATTATATATAATATATTATATATTATATAATATATATATAATATAT AATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	237	0.0042	210	c.36 others(221): Show c.3657_*3658insTATTATATATTATATATTATATATATATTATATA ATATATAATATATTATATATAATATATTATATATTATATATATTATATAT TATATAATATATAATATATTATATATAATATATATATTATATATATTATA TAATTTATAATATATATAATAATATATTATATATTATATATAATATATAT ATTATATATATTATATAATATATATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2392		chrX	TogoVar
DCDC2C_chr2_3698575_3853008	3704709	A A	AGGGGGGA others(203): Show AGGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAGAAACAGGGGTGTGGA GGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGGC GTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGC ATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAG GGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0010 a0002c0003t0005g0010	1	129	0.0078	210	c.287 others(225): Show c.287+690_287+691insAGGGGCATGGGGCAGAAACAGGGGTGTGGA GGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGGC GTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGC ATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAG GGGAGGGGGAGGGGGGGAGGGGCGTGGGGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24220873	A A	AGAGACAG others(203): Show AGAGACAGAGAGCGAGAGAGAGAGAGACAGAGAGCGAGAGCGAGAGAGAC AGAGAGCGAGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCG AGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAG TGAGCGAGCGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCG AGCGAGAGAGT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0128	1	136	0.0074	210	c.923 others(229): Show c.923-15772_923-15771insACTCTCTCGCTCGCTCGCTCACTCTC TCGCTCGCTCGCTCACTCTCTCGCTCGCTCGCTCACTCTCTCGCTCGCTC GCTCACTCTCTCGCTCGCTCGCTCACTCTCTCGCTCGCTCGCTCACTCTC TCGCTCGCTCGCTCACTCTCTCGCTCTCGCTCTCTGTCTCTCTCGCTCTC GCTCTCTGTCTCTCTCTCTCTCGCTCTCTGTCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(203): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATGTATATATACACATATATACAT ATATGTATATATACACATATATACATATATGTATATATGTGTATATATAC ACATATATACATATATGTATATATGTGTATATATACACATATATACATAT ATGTATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0052 a0001c0002t0014g0052	1	38	0.0263	210	c.804 others(227): Show c.804+6897_804+6898insCATATATACATATATGTATATATGTGTA TATATACACATATATACATATATGTATATATGTGTATATATACACATATA TACATATATGTATATATGTGTATATATACATATATGTATATATGTGTATA TATACATATATGTGTGTATATATATACACACATATATATACATATATATG TGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(203): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	218	0.0046	210	c.101 others(229): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1315834	G G	GTTTAAAA others(203): Show GTTTAAAAATAGAGTGTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTA CACTCGAGAAACTCGGCAGTGTTTAAAAATAGAGCCTGTGCGAGTGCAGC GTCTCTCCAACGGTGGTCTACACTCGAGAAACTTGGCAGCTTTTAAAAAT AGAGCGTGTGCGAGTGCAGCCTCTCTCCAACAGTGGTCTACACTCGAGAA ACTTCGCAGCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp2 HG01891.hp1 others(1): Show HG01071.hp2 HG01361.hp2 HG01891.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0011 others(1): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001	a0001c0002t0023 a0001c0003t0024 a0001c0011t0015 others(1): Show a0001c0002t0023 a0001c0003t0024 a0001c0011t0015 a0002c0001t0011	a0001c0002t0023g0005 a0001c0003t0024g0003 a0001c0011t0015g0001 others(1): Show a0001c0002t0023g0005 a0001c0003t0024g0003 a0001c0011t0015g0001 a0002c0001t0011g0002	4	34	0.1176	210	c.106 others(229): Show c.106+56964_106+56965insTGTGTGCGAGTGCAGCGTCTCTCCAA CAGTGGTCTACACTCGAGAAACTCGGCAGTGTTTAAAAATAGAGCCTGTG CGAGTGCAGCGTCTCTCCAACGGTGGTCTACACTCGAGAAACTTGGCAGC TTTTAAAAATAGAGCGTGTGCGAGTGCAGCCTCTCTCCAACAGTGGTCTA CACTCGAGAAACTTCGCAGCTTTTAAAAATAGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1352015	A A	ATCCTGAC others(203): Show ATCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAC GGCCGTGCGGGTCCTGACTGTGTTTGGAAAGGCCGTGCGGGTCCTGAGTG TGTGTGGAAACGCCGTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGCGG ATCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGTGTGGAAC GGCCGTGCGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 NA18906.hp1 HG02818.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0008 a0001c0002 a0002c0001 a0004c0008	a0001c0002t0027 a0002c0001t0005 a0004c0008t0016 a0001c0002t0027 a0002c0001t0005 a0004c0008t0016	a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0028 a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0028	3	27	0.1111	210	c.106 others(229): Show c.106+93173_106+93174insCGTGGAACGGCCGTGCGGGTCCTGAC TGTGTTTGGAAAGGCCGTGCGGGTCCTGAGTGTGTGTGGAAACGCCGTGC GGGTCCTGACTGTGTGTGGAAAGGCCGTGCGGATCCTGACTGTGTGTGGA AAGGCCGTGCGGGTCCTGAGTGTGTGTGGAACGGCCGTGCGGGTCCTGAC TGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GGGAGAGG others(203): Show GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGACAGA CAGAGACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	328	0.0030	210	c.29 others(221): Show c.2931_*2932insGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGACAGACAGAGACAGAC	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
DOCK1_chr10_126900428_127457516	126948320	G G	GTGGTGGT others(203): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0046 a0001c0005t0001g0046	1	132	0.0076	210	c.47- others(227): Show c.47-22352_47-22351insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(203): Show TATGATATATATATCATATATATGAAATATATGATATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATGATATATATCATATATATCATATATATCATATATATCATATATA TATCATATATATCATATATATGATATATATATCATATATATCATATATAT CATATATATGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19087.hp1 NA18984.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0170 a0001c0001t0001g0053 a0001c0001t0001g0170	2	77	0.0260	210	c.316 others(229): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATATCATATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATATCATATATATCATATATATGATATA TATATCATATATATCATATATATCATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(203): Show TATGATATATATATCATATATATGAAATATATGATATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATGATATATATCATATATATCATATATATCATATATATCATATATA TATCATATATATCATATATATGATATATATATGATATATATCATATATAT CATATATATGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	76	0.0132	210	c.316 others(229): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATATCATATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATATCATATATATCATATATATGATATA TATATGATATATATCATATATATCATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015953	T T	TATGATAT others(203): Show TATGATATATATATCATATATATGAAATATATGATATATATATCGTATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATGATATATATCATATATATCATATATATCATATATATCATATATA TATCATATATATCATATATATGATATATATATCATATATATCATATATAT CATATATATGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0082 a0001c0001t0010g0082	1	76	0.0132	210	c.316 others(229): Show c.316-48495_316-48494insATGATATATATATCATATATATGAAA TATATGATATATATATCGTATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATATCATATATATCATATATATGATATA TATATCATATATATCATATATATCATATATATGA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(203): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATGATATATATATCATATATATCATATATATCATATATAT GATATATATATCATATATATCATATATATATCATATATATGATATATATC ATATATATCAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	108	0.0093	210	c.316 others(229): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCATATATATGATATATATATCATA TATATCATATATATCATATATATGATATATATATCATATATATCATATAT ATATCATATATATGATATATATCATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK8_chr9_209865_470255	400799	A A	ACCTCCAC others(203): Show ACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTC CACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCA CCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCT ATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACCTCCAC CACCACCACCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0194 a0002c0007t0001g0194	1	245	0.0041	210	c.323 others(229): Show c.3234+1549_3234+1550insCCACCACCTCCACCACCAGCACTTCC ACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCAC CACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATA TTATCACCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACC ACCATCACCTCCACCACCACCACCTCCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400938	C C	CCACCACC others(203): Show CCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCC ACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGT CACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGC CCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACC TCCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19010.hp2 HG00621.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0001 a0001c0002t0001 a0002c0006t0001	a0001c0002t0001g0049 a0002c0006t0001g0222 a0001c0002t0001g0049 a0002c0006t0001g0222	2	243	0.0082	210	c.323 others(229): Show c.3234+1687_3234+1688insCCACCTCCACCATCACCACCACCTCC ACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCAC CTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCA CCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACC TCCAATATCACTACCTCCTCCACCATCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK7_chr4_3458306_3499482	3490396	G G	GTCCTTCA others(203): Show GTCCTTCATTACCCTCCTGCTCATTCATTCCTTCTTTCACCCCCCCCACC GCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCTTTCT TCTCCCTCTGCTCATTCATTCCTTCTTTCACCCCCCCCACCGCCCCGCTC ATTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCTTTCTTCTCCCTCC TGCTCATTCAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0329 a0007c0010t0001g0329	1	118	0.0085	210	c.772 others(225): Show c.772+606_772+607insATTACCCTCCTGCTCATTCATTCCTTCTTT CACCCCCCCCACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCA TTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTCTTTCACCCCCCC CACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCT TTCTTCTCCCTCCTGCTCATTCATTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(203): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT AATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATAATATATATATAATATATATAATATATATATAATATAT ATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00741.hp2 others(44): Show HG00140.hp1 HG00423.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp2 HG01175.hp2 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG03491.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18972.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp2 NA19011.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0007 a0002c0002 a0013c0007	a0002c0002t0002 a0013c0007t0002 a0002c0002t0002 a0013c0007t0002	a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 others(37): Show a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0013c0007t0002g0086	47	222	0.2117	210	c.554 others(227): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATAATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(203): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT ATTATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATAATATATATATAATATATATAATATATATATAATATAT ATATTTAAAAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	176	0.0057	210	c.554 others(227): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATATTATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(203): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATTATATATATATAATATATATAATATATATATAATATAT ATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03471.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0004 a0001c0001t0001g0053	3	178	0.0169	210	c.554 others(227): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATTATATATATATAATATATATAATAT ATATATAATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(203): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02735.hp1 NA18984.hp2 HG02132.hp1 HG02735.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0124 a0002c0002t0001g0102 a0001c0001t0001g0056 a0001c0001t0001g0124 a0002c0002t0001g0102	3	157	0.0191	210	c.-10 others(229): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCCT others(203): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp2 HG02004.hp2 others(2): Show HG01261.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0192 others(2): Show a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194	5	224	0.0223	210	c.-10 others(229): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619397	C C	CCCCCCCC others(203): Show CCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0247 a0001c0001t0001g0248	2	236	0.0085	210	c.-10 others(229): Show c.-107+5684_-107+5685insCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619428	C C	CCCCCCCT others(203): Show CCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0176 a0002c0002t0003g0176	1	233	0.0043	210	c.-10 others(229): Show c.-107+5714_-107+5715insCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results