Joint Open Genome and Omics Platform (JoGo)

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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
DIP2C_chr10_269201_694668	323012	C C	CGAGAGAC others(42): Show CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0071 a0001c0024t0003g0071	1	88	0.0114	49	c.392 others(68): Show c.3924+3993_3924+3994insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323104	C C	CTCCGGCG others(42): Show CTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	49	c.392 others(68): Show c.3924+3901_3924+3902insCCCCCGCACCCCCGACTGACTGTTCT AACAACGCCGGCCTCTCGCCGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323110	C C	CGAGAGAC others(42): Show CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	88	0.0114	49	c.392 others(68): Show c.3924+3895_3924+3896insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323157	A A	AGTGAGAG others(42): Show AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	49	c.392 others(68): Show c.3924+3848_3924+3849insCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323251	C C	CTCCAGCG others(42): Show CTCCAGCGAGAGACTGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	88	0.0114	49	c.392 others(68): Show c.3924+3754_3924+3755insCCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCAGTCTCTCGCTGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0068 a0001c0005t0001g0068	1	88	0.0114	49	c.392 others(68): Show c.3924+3686_3924+3687insACACTGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323451	A A	AGTGAGAG others(42): Show AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0035 a0001c0014t0002g0035	1	88	0.0114	49	c.392 others(68): Show c.3924+3554_3924+3555insCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477536	A A	AAGGAGGG others(42): Show AAGGAGGGGGCACAGGGGGAGGAAGGGGCACGGGGGAAGGTGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	49	c.158 others(66): Show c.158-4988_158-4987insCACCCCCCCACCTTCCCCCGTGCCCCTT CCTCCCCCTGTGCCCCCTCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	489633	T T	TTTCACAC others(42): Show TTTCACACTAGGGACACGGTGGCTCTGACGGTGCCCGGGGCTTCCTCCAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0011 a0001c0019t0003g0011	1	88	0.0114	49	c.86- others(64): Show c.86-3152_86-3104dupGTGGAGGAAGCCCCGGGCACCGTCAGAGCC ACCGTGTCCCTAGTGTGAA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608564	C C	CCACACAC others(42): Show CCACACACACACACATCCCCCCCCCACACACACACATCCCCCCCCCCACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	88	0.0114	49	c.85+ others(66): Show c.85+80929_85+80930insTGTGGGGGGGGGGATGTGTGTGTGTGGG GGGGGGATGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608594	A A	ACATCCCC others(42): Show ACATCCCCCCCCCACACACACACACATCCCCCCCACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	49	c.85+ others(66): Show c.85+80899_85+80900insATGTGTGTGTGTGTGTGGGGGGGATGTG TGTGTGTGTGGGGGGGGGATG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0136 a0001c0003t0004g0136	1	400	0.0025	49	c.558 others(64): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0152 a0001c0003t0015g0152	1	400	0.0025	49	c.558 others(64): Show c.558+251_558+252insAAAAATATATATATATATATATATATATAT ATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAATAT others(42): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	400	0.0025	49	c.558 others(64): Show c.558+251_558+252insAAATATATATATATATATATATATATATAT ATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0003 a0001c0003t0068g0003	1	396	0.0025	49	c.36 others(60): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(42): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0277	1	336	0.0030	49	c.51 others(60): Show c.5150_*5151insAAAAAAAATATATATATATATATATATATATATA TATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13479829	G G	GAGAAAAA others(42): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0008 a0002c0014t0008	a0002c0014t0008g0095 a0002c0014t0008g0095	1	212	0.0047	49	c.102 others(70): Show c.1023+19219_1023+19220insTCTTTCTTTTCCTTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTTTTCT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(42): Show ATGTATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	49	c.19- others(66): Show c.19-26246_19-26245insTGTATATATATATATATATATATATATA TATATATATATATATACACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	965613	G G	GCCCCGCA others(42): Show GCCCCGCACTGCACACGGCACTGTTCACCACACACGGCTCCTGAGTCTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	49	c.73+ others(66): Show c.73+57680_73+57681insCGGCTCCTGAGTCTGACCCCGCACTGCA CACGGCACTGTTCACCACACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1348498	A A	ACATTGCA others(42): Show ACATTGCACTCATGGTAGCTGTGTGGAGGTTGAGTTTCCACATAGAGCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0001c0003t0017 a0002c0001t0002 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028	3	40	0.0750	49	c.106 others(68): Show c.106+89628_106+89629insGTAGCTGTGTGGAGGTTGAGTTTCCA CATAGAGCTGCATTGCACTCATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMBT1_chr10_122555754_122648736	122644061	C C	CTGCTGTC others(42): Show CTGCTGTCATGCTGTGCTGCTGTGCGGTCTGTGCGGTTGTGCGGCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0086 a0086	a0086c0056 a0086c0056	a0086c0056t0007 a0086c0056t0007	a0086c0056t0007g0247 a0086c0056t0007g0247	1	282	0.0036	49	c.66 others(58): Show c.663_*664insTGCTGTCATGCTGTGCTGCTGTGCGGTCTGTGCGGT TGTGCGGCTGTGT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding		326		chr10	TogoVar
DNAH10_chr12_123757301_123940714	123908136	T T	TCTCCCTG others(42): Show TCTCCCTGTCTCCTCCCTATCTCCCTGTCTCCTCCCTGTCTCTCTGTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20300.hp2 HG01243.hp2 NA20300.hp2	a0033 a0069 a0033 a0069	a0033c0094 a0069c0060 a0033c0094 a0069c0060	a0033c0094t0001 a0069c0060t0001 a0033c0094t0001 a0069c0060t0001	a0033c0094t0001g0169 a0069c0060t0001g0043 a0033c0094t0001g0169 a0069c0060t0001g0043	2	170	0.0118	49	c.981 others(68): Show c.9816-1122_9816-1121insCCTGTCTCCTCCCTATCTCCCTGTCT CCTCCCTGTCTCTCTGTCCCCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911763	T T	TGGGGGGT others(42): Show TGGGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0062 a0062	a0062c0042 a0062c0042	a0062c0042t0002 a0062c0042t0002	a0062c0042t0002g0091 a0062c0042t0002g0091	1	170	0.0059	49	c.101 others(70): Show c.10134+1108_10134+1109insCGGGGGGGTCTGTCCTGGGGGGGT CTGTCCTGGGGGGGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912233	T T	TGGGGGGG others(42): Show TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0041 a0041	a0041c0086 a0041c0086	a0041c0086t0001 a0041c0086t0001	a0041c0086t0001g0162 a0041c0086t0001g0162	1	170	0.0059	49	c.101 others(68): Show c.10135-860_10135-859insGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0001 a0015c0012t0001	a0015c0012t0001g0108 a0015c0012t0001g0108	1	266	0.0038	49	c.133 others(68): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0111 a0111	a0111c0227 a0111c0227	a0111c0227t0001 a0111c0227t0001	a0111c0227t0001g0128 a0111c0227t0001g0128	1	252	0.0040	49	c.129 others(68): Show c.12916-186_12916-185insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541139	G G	GGGTGGGG others(42): Show GGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTGGGGGGATGAGCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0020 a0020	a0020c0121 a0020c0121	a0020c0121t0001 a0020c0121t0001	a0020c0121t0001g0227 a0020c0121t0001g0227	1	252	0.0040	49	c.253 others(68): Show c.2533-1260_2533-1259insTGCTCATCCCCCCACCTGCTCATCCC CCCACCCCGCTCACCCCCCCACC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541205	G G	GGGGTGGG others(42): Show GGGGTGGGGGGATGAGCAGGTGGGGGGGTGAGCGGGGTGGGGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0116 a0116	a0116c0196 a0116c0196	a0116c0196t0001 a0116c0196t0001	a0116c0196t0001g0158 a0116c0196t0001g0158	1	252	0.0040	49	c.253 others(68): Show c.2533-1326_2533-1325insTGCTCACCCCCCACCCCGCTCACCCC CCCACCTGCTCATCCCCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19058.hp1 HG02698.hp1 NA19058.hp1	a0001 a0072 a0001 a0072	a0001c0005 a0072c0063 a0001c0005 a0072c0063	a0001c0005t0001 a0072c0063t0001 a0001c0005t0001 a0072c0063t0001	a0001c0005t0001g0093 a0072c0063t0001g0095 a0001c0005t0001g0093 a0072c0063t0001g0095	2	316	0.0063	49	c.229 others(66): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0040 a0012c0017t0002g0040	1	316	0.0032	49	c.229 others(66): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0043 a0012c0017t0002g0043	1	316	0.0032	49	c.229 others(66): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGA others(42): Show GGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18981.hp2 NA18947.hp2 NA18981.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0029 a0001c0001 a0018c0029	a0001c0001t0001 a0018c0029t0001 a0001c0001t0001 a0018c0029t0001	a0001c0001t0001g0210 a0018c0029t0001g0213 a0001c0001t0001g0210 a0018c0029t0001g0213	2	234	0.0086	49	c.324 others(66): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCCCTCCCTCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(42): Show GGGGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0154 a0001c0085t0001g0154	1	234	0.0043	49	c.324 others(66): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCCCTCCCTCCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18964.hp1 NA18980.hp1 others(2): Show NA18939.hp2 NA18964.hp1 NA18980.hp1 NA18984.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	338	0.0148	49	c.29 others(60): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAC AGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	279	0.0036	49	c.59 others(60): Show c.5994_*5995insAAAAAAAAATATATATATATATATATATATATAT ATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	279	0.0036	49	c.59 others(60): Show c.5994_*5995insAAAAAAAAAAATATATATATATATATATATATAT ATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNMBP_chr10_99870577_100014947	99892056	T T	TCCCTGCC others(42): Show TCCCTGCCCGGCCAGCGGCCCCGTCCGGGAGGAAGGTGGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG02809.hp2 HG02970.hp1	a0001 a0009 a0001 a0009	a0001c0011 a0009c0021 a0001c0011 a0009c0021	a0001c0011t0006 a0009c0021t0006 a0001c0011t0006 a0009c0021t0006	a0001c0011t0006g0088 a0009c0021t0006g0087 a0001c0011t0006g0088 a0009c0021t0006g0087	2	274	0.0073	49	c.315 others(68): Show c.3156+2889_3156+2890insGGCTGACCCCCCCACCTTCCTCCCGG ACGGGGCCGCTGGCCGGGCAGGG	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99892060	C C	CGCCCGGC others(42): Show CGCCCGGCCAGCGGCCCCGTCCGGGAGGAAGGTGGGGGGGTCAGCCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00733.hp2 others(30): Show HG00423.hp1 HG00621.hp2 HG00733.hp2 HG01106.hp2 HG01255.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG02004.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18984.hp1 NA18993.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp2 NA19084.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0006 a0001c0011 a0001c0018 others(4): Show a0001c0006 a0001c0011 a0001c0018 a0003c0005 a0003c0020 a0004c0014 a0013c0025	a0001c0006t0004 a0001c0006t0011 a0001c0011t0004 others(7): Show a0001c0006t0004 a0001c0006t0011 a0001c0011t0004 a0001c0011t0011 a0001c0018t0004 a0003c0005t0004 a0003c0005t0010 a0003c0020t0004 a0004c0014t0006 a0013c0025t0016	a0001c0006t0004g0123 a0001c0006t0004g0169 a0001c0006t0004g0183 others(30): Show a0001c0006t0004g0123 a0001c0006t0004g0169 a0001c0006t0004g0183 a0001c0006t0004g0242 a0001c0006t0004g0243 a0001c0006t0004g0252 a0001c0006t0004g0253 a0001c0006t0011g0120 a0001c0011t0004g0012 a0001c0011t0011g0153 a0001c0018t0004g0249 a0003c0005t0004g0026 a0003c0005t0004g0124 a0003c0005t0004g0125 a0003c0005t0004g0127 a0003c0005t0004g0128 a0003c0005t0004g0131 a0003c0005t0004g0132 a0003c0005t0004g0133 a0003c0005t0004g0134 a0003c0005t0004g0135 a0003c0005t0004g0136 a0003c0005t0004g0137 a0003c0005t0004g0139 a0003c0005t0004g0141 a0003c0005t0004g0142 a0003c0005t0010g0138 a0003c0020t0004g0126 a0003c0020t0004g0130 a0004c0014t0006g0117 a0004c0014t0006g0118 a0004c0014t0006g0119 a0013c0025t0016g0219	33	274	0.1204	49	c.315 others(68): Show c.3156+2885_3156+2886insAGGGGGCTGACCCCCCCACCTTCCTC CCGGACGGGGCCGCTGGCCGGGC	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNMT3A_chr2_25222874_25346925	25300659	A A	ATATATAT others(42): Show ATATATATACATATATATATATACATATATATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0083 a0001c0001t0090g0083	1	294	0.0034	49	c.73- others(62): Show c.73-417_73-416insATGTATATATATGTATATATATATATGTATAT ATATATATGTATATATA	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22			chr2	TogoVar
DNTT_chr10_96299434_96343564	96326186	A A	AGTGAGTT others(42): Show AGTGAGTTGTACTTTGAATATTAGTCATGATGACAGTTTCTGTATTACAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	330	0.0030	49	c.875 others(66): Show c.875-1281_875-1233dupGTGAGTTGTACTTTGAATATTAGTCATG ATGACAGTTTCTGTATTACAG	DNTT	ENSG00000107447.8	transcript	ENST00000371174.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347840	T T	TCCCCTCC others(42): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0108 a0003c0003t0004g0108	1	136	0.0074	49	c.322 others(68): Show c.3224+4094_3224+4095insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51			chr10	TogoVar
DOK7_chr4_3458306_3499482	3490408	C C	CTCCTGCT others(42): Show CTCCTGCTCATTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0239 a0004c0004t0006g0239	1	404	0.0025	49	c.772 others(64): Show c.772+612_772+613insTCCTGCTCATTCATTCCTTTCTTCTCCCTC TGCTCATTCATTCCTTCCT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6			chr4	TogoVar
DPEP1_chr16_89608642_89643433	89634976	T T	TCCCTTCC others(42): Show TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	250	0.0040	49	c.105 others(64): Show c.105-897_105-896insCTTCCTTCCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635223	T T	TTCCTTCT others(42): Show TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	250	0.0040	49	c.105 others(64): Show c.105-677_105-676insCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTCCTTCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DTD1_chr20_18583054_18771644	18708224	T T	TATATTAT others(42): Show TATATTATATATATTATATATATATTATATATATATTAAATATATATTAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(64): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19086.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0031	a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0045 others(63): Show a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0009g0055 a0001c0001t0009g0060 a0001c0001t0009g0061 a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0001t0015g0043 a0001c0001t0015g0056 a0001c0001t0015g0126 a0001c0001t0021g0058 a0001c0001t0021g0079 a0001c0001t0031g0099	67	398	0.1683	49	c.478 others(68): Show c.478-35872_478-35871insTATATATATTATATATATATTATATA TATATTAAATATATATTACATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNB_chr2_25372243_25678577	25634220	T T	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	168	0.0060	49	c.148 others(66): Show c.148+4745_148+4793dupGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20			chr2	TogoVar
DVL1_chr1_1330278_1354418	1351046	A A	AGGAGCGA others(42): Show AGGAGCGACGGGGATGAGAGGGTGAGGAGGGGCCTGGAGGGCCGGCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	344	0.0029	49	c.-19 others(60): Show c.-1982_-1981insCCCAGCCGGCCCTCCAGGCCCCTCCTCACCCTCT CATCCCCGTCGCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1629		chr1	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	49	c.75 others(58): Show c.757_*758insAAAAATATATATATATATATATATATATATATATAT ATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(42): Show GTTTTTGTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0038 a0001c0001t0107g0038	1	350	0.0029	49	c.301 others(66): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
EBF3_chr10_129830233_129969274	129920028	C C	CAGTATCT others(42): Show CAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG02886.hp1 others(4): Show HG00673.hp1 HG01071.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03710.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0022 a0001c0001t0055 a0001c0002t0004	a0001c0001t0001g0208 a0001c0001t0003g0011 a0001c0001t0015g0053 others(4): Show a0001c0001t0001g0208 a0001c0001t0003g0011 a0001c0001t0015g0053 a0001c0001t0022g0174 a0001c0001t0022g0175 a0001c0001t0055g0334 a0001c0002t0004g0300	7	338	0.0207	49	c.554 others(68): Show c.554+37181_554+37229dupCGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar

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