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
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(39): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02965.hp1 HG03490.hp2 others(2): Show HG02071.hp2 HG02965.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0001g0200	5	34	0.1471	46	c.24 others(57): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1765170	G G	GTATATAT others(39): Show GTATATATATACATGTATATGTGTATATATATACATGTATATGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	379	0.0026	46	c.-13 others(57): Show c.-1312_-1311insTACACATATACATGTATATATATACACATATACA TGTATATATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1244		chr11	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCAC others(39): Show GCGCGCACGCGCGCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	220	0.0045	46	c.-16 others(65): Show c.-161-4742_-161-4741insGCGCACGCGCGCACACACACACACAC ACACACACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0081 a0001c0008t0001g0003 a0001c0001t0001g0081 a0001c0008t0001g0003	2	73	0.0274	46	c.292 others(65): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCTCTCTCCC CCTCTCTCCCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0008 a0002c0006t0002g0008	1	150	0.0067	46	c.670 others(61): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18940.hp1 HG01192.hp2 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0105 a0002c0002t0001g0060 a0002c0002t0001g0105	2	146	0.0137	46	c.180 others(65): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TATACTGATATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(39): Show CATACATACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0304 a0002c0008t0005g0304	1	93	0.0108	46	c.304 others(63): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATATATATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963496	T T	TAACATAA others(39): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	335	0.0030	46	c.-6- others(63): Show c.-6-16251_-6-16206dupTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYP26B1_chr2_72124238_72152862	72144520	G G	GCCCCCAC others(39): Show GCCCCCACCCCCACCCCCACACCCCCACCCCCACCCCCACCCCCACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02895.hp1 others(2): Show HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039	a0001c0001t0021g0132 a0001c0001t0021g0133 a0001c0001t0022g0039 others(1): Show a0001c0001t0021g0132 a0001c0001t0021g0133 a0001c0001t0022g0039 a0001c0001t0039g0131	5	307	0.0163	46	c.205 others(61): Show c.205-308_205-307insTGTGGGGGTGGGGGTGGGGGTGGGGGTGTG GGGGTGGGGGTGGGGG	CYP26B1	ENSG00000003137.9	transcript	ENST00000001146.7	protein_coding	1/5			chr2	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(39): Show ATATATGTATATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(50): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01071.hp1 HG01192.hp2 HG01496.hp2 HG02027.hp2 HG02040.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG03654.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0009 others(39): Show a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133	53	339	0.1563	46	c.-40 others(57): Show c.-4027_-4026insTATATGTATATATATATATATATATACGTGTGTG TATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(39): Show ATATATGTATATATGTATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	287	0.0035	46	c.-40 others(57): Show c.-4027_-4026insTATATGTATATATGTATATATATATACGTGTGTG TATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(39): Show ATATATGTGTATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	287	0.0035	46	c.-40 others(57): Show c.-4027_-4026insTATATGTGTATATATATATATATATACGTGTGTG TATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934658	A A	ATATGTAT others(39): Show ATATGTATATATATATATATATATACGTGTGTGTATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	371	0.0027	46	c.-40 others(57): Show c.-4025_-4024insTATGTATATATATATATATATATACGTGTGTGTA TATATATATGTG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		3999		chr10	TogoVar
CYP2E1_chr10_133522363_133544123	133528217	A A	AGTCCGCG others(39): Show AGTCCGCGGAGTTGCCGCGGAGTTGTCCGCGGAGTTGCCGCGGAGTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 HG02258.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0103 a0001c0002t0001g0104	2	406	0.0049	46	c.178 others(61): Show c.178-230_178-229insTGCCGCGGAGTTGTCCGCGGAGTTGCCGCG GAGTTGTCCGCGGAGT	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATACATA others(39): Show CATACATACATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	31	0.0323	46	c.491 others(61): Show c.491-128_491-127insCATACATACATATATATATATATATATATA TATATATATATATATA	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	31	0.0323	46	c.491 others(61): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4F3_chr19_15635897_15667825	15650799	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTCTCTCTTCTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	409	0.0024	46	c.918 others(61): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC TTTCTCTCTCTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64643088	T T	TGTATATA others(39): Show TGTATATATATACACATATATATACATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02818.hp2 HG02976.hp1 others(2): Show HG02027.hp2 HG02818.hp2 HG02976.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0238	5	145	0.0345	46	c.123 others(65): Show c.123-18550_123-18549insGTATATATATGTGTATATATATGTAT ATATATGTGTATATATATAC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03017.hp2 NA19011.hp1 HG02056.hp1 HG03017.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0028g0288 a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0028g0288	3	12	0.2500	46	c.-13 others(67): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	10	0.1000	46	c.527 others(65): Show c.527+34177_527+34178insATATATATATATATATATATATATAT ATATATATATATATATATAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546394	T T	TCTTCTTC others(39): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	162	0.0062	46	c.640 others(65): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCTTCCTTCTTCTTC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(39): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	100	0.0100	46	c.640 others(65): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86705063	A A	ATATATCT others(39): Show ATATATCTCACATATATATATATATATATCTCACATATATATATATC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	112	0.0089	46	c.932 others(63): Show c.932-9482_932-9481insATCTCACATATATATATATATATATCTC ACATATATATATATCTAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168311596	A A	ACTCACAC others(39): Show ACTCACACCCATACACACACACTCACACACAAACACACACACCCATC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19056.hp2 NA19004.hp1 NA19056.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0023 a0001c0001 a0023c0023	a0001c0001t0001 a0023c0023t0001 a0001c0001t0001 a0023c0023t0001	a0001c0001t0001g0246 a0023c0023t0001g0214 a0001c0001t0001g0246 a0023c0023t0001g0214	2	424	0.0047	46	c.247 others(61): Show c.247-313_247-312insGATGGGTGTGTGTGTTTGTGTGTGAGTGTG TGTGTATGGGTGTGAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DAGLB_chr7_6404129_6452954	6406473	A A	AATTCTAG others(39): Show AATTCTAGGTTGGTGTGAACATCCCTTTTAAGTTATATTTTTGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	378	0.0026	46	c.33 others(57): Show c.3363_*3364insGTCCCAAAAATATAACTTAAAAGGGATGTTCACA CCAACCTAGAAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding		2655		chr7	TogoVar
DAPK2_chr15_63902036_64051485	64036309	G G	GTATATAT others(39): Show GTATATATATGTATATATATATATATGTATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA20752.hp1 HG01934.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0120 a0001c0001t0001g0159	2	109	0.0183	46	c.92+ others(61): Show c.92+3860_92+3861insTATATATGTATATATATATACATATATATA TATATACATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036321	A A	ATATATAT others(39): Show ATATATATATATATGTATATATATATACATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	196	0.0051	46	c.92+ others(61): Show c.92+3848_92+3849insCACATATATATATATATATGTATATATATA TACATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DCC_chr18_52335197_53540899	52907307	C C	CATATGTA others(39): Show CATATGTATATGTATATGTATATATCCATATGGATATATACATATGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18966.hp2 HG02080.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0078 a0002c0001t0005g0088 a0002c0001t0005g0078 a0002c0001t0005g0088	2	11	0.1818	46	c.697 others(61): Show c.697+995_697+996insGTATATATCCATATGGATATATACATATGT ATATGTATATGTATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300985	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19057.hp1 NA19065.hp2 NA18979.hp2 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0034 a0001c0002t0005 a0001c0002t0034	a0001c0002t0005g0028 a0001c0002t0005g0050 a0001c0002t0034g0091 a0001c0002t0005g0028 a0001c0002t0005g0050 a0001c0002t0034g0091	3	108	0.0278	46	c.191 others(65): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCCTTTC TTTCTTTCTTTCTTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(39): Show CACACATATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0046 a0004c0009t0001g0046	1	114	0.0088	46	c.105 others(65): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATATGTATATGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACATATA others(39): Show CACATATACATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0124 a0001c0006t0010g0124	1	114	0.0088	46	c.105 others(65): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATGTATATGTATATGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250421	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	77	0.0130	46	c.105 others(65): Show c.1055-8806_1055-8805insATATGTATATATATATATATATATAT ATATATATATATATATATAT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35826532	A A	AGGAAGGA others(39): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0140 a0001c0005t0025g0140	1	217	0.0046	46	c.140 others(65): Show c.1407+1102_1407+1103insCCTTCCTTCCTTCCTTCCTTCCTCCC TTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCUN1D2_chr13_113450819_113495711	113473062	G G	GCCTCTGT others(39): Show GCCTCTGTCCCCCGTCTCTCTATCCCTCTGTCTCCTGTGCCTCTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0160 a0001c0001t0020g0160	1	359	0.0028	46	c.520 others(63): Show c.520+1016_520+1061dupGACAGAGGCACAGGAGACAGAGGGATAG AGAGACGGGGGACAGAGG	DCUN1D2	ENSG00000150401.15	transcript	ENST00000478244.6	protein_coding	4/6			chr13	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0106 a0001c0001t0070g0106	1	67	0.0149	46	c.12 others(59): Show c.12593_*12594insTATATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0168 a0001c0001t0052g0168	1	67	0.0149	46	c.12 others(59): Show c.12593_*12594insTATATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049791	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATACATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	48	0.0208	46	c.12 others(59): Show c.12567_*12568insAAAAAAAAAAAATATGTATATATATATATATA TATATATATATATA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		894		chr11	TogoVar
DDX28_chr16_68015916_68028232	68020785	G G	GTATATAT others(39): Show GTATATATATATATACATATATATATATACGTATATATATGTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	373	0.0054	46	c.79 others(55): Show c.794_*795insTACATACATATATATACGTATATATATATATGTATA TATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		130		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	128	0.0078	46	c.144 others(63): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632252	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	395	0.0025	46	c.144 others(63): Show c.1441-162_1441-161insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632254	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0253 a0006c0010t0001g0233 a0001c0001t0001g0253 a0006c0010t0001g0233	2	391	0.0051	46	c.144 others(63): Show c.1441-164_1441-163insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632256	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	397	0.0025	46	c.144 others(63): Show c.1441-166_1441-165insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DEAF1_chr11_639233_700222	690317	A A	AGGGCAGG others(39): Show AGGGCAGGGGAGGGGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	342	0.0029	46	c.387 others(63): Show c.387+1183_387+1184insCTGCCCTCCCCTGCCCTGCCCTCCCCTC CCCTCCCCTCCCCTGCCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0054 a0002c0003t0002g0054	1	197	0.0051	46	c.59- others(59): Show c.59-944_59-943insATATATATATATATATATATATATATATATAT ATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(39): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	21	0.0476	46	c.994 others(65): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711486	A A	AAAATATA others(39): Show AAAATATATATATATATGTATATATGTATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0090 a0001c0002t0017g0090	1	94	0.0106	46	c.303 others(65): Show c.303-34698_303-34697insACATATATATATATATATATACATAT ATACATATATATATATATTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711522	T T	TATATATA others(39): Show TATATATATATGTATATATGTATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02258.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0011 a0002c0015t0011 a0001c0006t0011 a0002c0015t0011	a0001c0006t0011g0162 a0002c0015t0011g0161 a0001c0006t0011g0162 a0002c0015t0011g0161	2	159	0.0126	46	c.303 others(65): Show c.303-34734_303-34733insGTATATATATATATATATATATATAT ACATATATACATATATATAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(39): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0047 a0003c0002t0001g0047	1	276	0.0036	46	c.-25 others(65): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8810806	G G	GTCTCTCT others(39): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0004 a0010c0014t0004	a0010c0014t0004g0282 a0010c0014t0004g0282	1	204	0.0049	46	c.-31 others(55): Show c.-316_-315insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding		133		chr11	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(39): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(69): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG02040.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0024 others(4): Show a0001c0001 a0001c0003 a0001c0024 a0002c0002 a0002c0008 a0002c0015 a0009c0021	a0001c0001t0001 a0001c0001t0033 a0001c0001t0035 others(12): Show a0001c0001t0001 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0003t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0019 a0002c0002t0037 a0002c0008t0001 a0002c0008t0039 a0002c0015t0001 a0009c0021t0001	a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0159 others(68): Show a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0033g0048 a0001c0001t0035g0166 a0001c0001t0036g0033 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0214 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0229 a0001c0003t0001g0232 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0253 a0001c0024t0001g0196 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0234 a0002c0002t0001g0242 a0002c0002t0001g0250 a0002c0002t0001g0256 a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0316 a0002c0002t0010g0272 a0002c0002t0010g0291 a0002c0002t0010g0293 a0002c0002t0015g0221 a0002c0002t0015g0233 a0002c0002t0019g0284 a0002c0002t0019g0297 a0002c0002t0037g0277 a0002c0008t0001g0228 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0001g0240 a0002c0008t0001g0243 a0002c0008t0001g0252 a0002c0008t0039g0235 a0002c0015t0001g0054 a0009c0021t0001g0273	72	191	0.3770	46	c.43 others(57): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar

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