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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0026 a0026	a0026c0028 a0026c0028	a0026c0028t0001 a0026c0028t0001	a0026c0028t0001g0249 a0026c0028t0001g0249	1	82	0.0122	35	c.730 others(54): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATTTTTTTT		DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73						chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02145.hp2 HG02132.hp2 HG02145.hp2	a0004 a0014 a0004 a0014	a0004c0004 a0014c0011 a0004c0004 a0014c0011	a0004c0004t0001 a0014c0011t0001 a0004c0004t0001 a0014c0011t0001	a0004c0004t0001g0105 a0014c0011t0001g0065 a0004c0004t0001g0105 a0014c0011t0001g0065	2	60	0.0333	35	c.133 others(54): Show c.1335+1673_1335+1674insATATATATATATATATATTTTTTTTT TTTTTTTTT		DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73						chr3	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0148 a0004c0006t0001g0148	1	6	0.1667	35	c.129 others(54): Show c.12916-186_12916-185insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78433950	A A	AAGGAGGG others(28): Show AAGGAGGGAGGGAAGGAGGGAGGGAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0105 a0105	a0105c0191 a0105c0191	a0105c0191t0001 a0105c0191t0001	a0105c0191t0001g0157 a0105c0191t0001g0157	1	250	0.0040	35	c.122 others(52): Show c.12225+78_12225+79insCCCTCCCTCCTTCCCTCCCTCCTTCCCT CCCTCCT		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541142	T T	TGGGGGGG others(28): Show TGGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0009 a0009	a0009c0142 a0009c0142	a0009c0142t0001 a0009c0142t0001	a0009c0142t0001g0036 a0009c0142t0001g0036	1	217	0.0046	35	c.253 others(54): Show c.2533-1263_2533-1262insCACCTGCTCATCCCCCCACCCCGCTC ACCCCCCCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(28): Show GGGGGGGGTGGGGGGGTGGGGAGGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0181 a0008c0012t0001g0181	1	170	0.0059	35	c.324 others(52): Show c.3244-354_3244-353insTCTCTCTCTCCCCCTCCCCACCCCCCCA CCCCCCC		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61						chr16	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0049 a0049	a0049c0042 a0049c0042	a0049c0042t0001 a0049c0042t0001	a0049c0042t0001g0067 a0049c0042t0001g0067	1	153	0.0065	35	c.527 others(52): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTC		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78						chr5	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATTT others(28): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0018 a0018	a0018c0059 a0018c0059	a0018c0059t0002 a0018c0059t0002	a0018c0059t0002g0270 a0018c0059t0002g0270	1	101	0.0099	35	c.-35 others(50): Show c.-35+546_-35+547insATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92					INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAI2_chr17_74269234_74319884	74296346	G G	GAGAGGAG others(28): Show GAGAGGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0341 a0001c0002t0002g0341	1	319	0.0031	35	c.725 others(52): Show c.725-3372_725-3371insAGAGGAGAGAGAGAGAGGAGAGAGAGAG AGAGAGA		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	6/13						chr17	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	2	0.5000	35	c.189 others(48): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15						chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01975.hp1 others(2): Show HG01070.hp2 HG01074.hp1 HG01975.hp1 HG02486.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0002g0015	5	51	0.0980	35	c.124 others(54): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT		DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15						chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157410607	G G	GCATGTAG others(28): Show GCATGTAGGCTTGGCCCTGACTGCGTCCTAAAGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	370	0.0027	35	c.898 others(50): Show c.898+607_898+641dupCATGTAGGCTTGGCCCTGACTGCGTCCTAA AGCCC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0330 a0002c0003t0008g0330	1	56	0.0179	35	c.108 others(52): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC18_chr5_139405203_139444525	139440562	A A	AACTCAGA others(28): Show AACTCAGAGAACGGCCGGGCGCGGTGGCTTATGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	312	0.0032	35	c.-11 others(46): Show c.-1152_-1118dupAGGCATAAGCCACCGCGCCCGGCCGTTCTCTGAG T		DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding					1038		chr5	TogoVar
DNAJC1_chr10_21751548_22008730	21910829	A A	AAGGAAAG others(28): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	33	0.0303	35	c.730 others(52): Show c.730-6218_730-6217insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTTTCCT		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	6/11						chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19009.hp1 NA19067.hp1 NA18991.hp1 NA19009.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0006g0144 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0006g0144	3	208	0.0144	35	c.83- others(50): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237081	C C	CGAGAGAG others(28): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	279	0.0036	35	c.28 others(46): Show c.2897_*2898insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G		DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding					2801		chr11	TogoVar
DNAL1_chr14_73639986_73708732	73648417	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04204.hp1 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0065 a0001c0001t0004 a0001c0001t0065	a0001c0001t0004g0027 a0001c0001t0065g0213 a0001c0001t0004g0027 a0001c0001t0065g0213	2	334	0.0060	35	c.3+3 others(48): Show c.3+3375_3+3376insATATATATATATATATATATATATATATATAT ATA		DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7						chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(28): Show ATATATATATATATAGAATAATATACTATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	157	0.0064	35	c.59 others(46): Show c.5994_*5995insAAAATATATAGTATATTATTCTATATATATATAT A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	157	0.0064	35	c.59 others(46): Show c.5994_*5995insAAAAAAAAATATATATATATATATATATATATAT A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	157	0.0064	35	c.59 others(46): Show c.5994_*5995insAAAAAAAAAAAAAAATATATATATATATATATAT A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNM2_chr19_10713079_10836903	10823862	C C	CCCCACAC others(28): Show CCCCACACACACACACAAAACCCATAAAGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0267 a0003c0008t0001g0267	1	276	0.0036	35	c.185 others(44): Show c.1856_1857insCCCACACACACACACAAAACCCATAAAGGGGGGGG	p.Phe others(5): Show p.Phe620fs	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	17/21	2021/3633	1857/2613	619/870			chr19	TogoVar
DNM3_chr1_171836498_172417717	172008836	T T	TATATTAA others(28): Show TATATTAATATATTATATTATATTACTATATAAATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	134	0.0075	35	c.589 others(54): Show c.589+19708_589+19742dupTATTACTATATAAATAATATTAATAT ATTATATTA		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp2 HG01168.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0115 a0001c0001t0002g0117	2	43	0.0465	35	c.244 others(52): Show c.244-4329_244-4328insATATATATATATATATATATATATATTT TTTTTTT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	42	0.0238	35	c.244 others(52): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT TTTTTTT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK1_chr10_126900428_127457516	127093239	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG02922.hp2 HG00741.hp1 HG01261.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0038 a0001c0064 a0002c0070 a0001c0038 a0001c0064 a0002c0070	a0001c0038t0001 a0001c0064t0001 a0002c0070t0002 a0001c0038t0001 a0001c0064t0001 a0002c0070t0002	a0001c0038t0001g0076 a0001c0064t0001g0055 a0002c0070t0002g0093 a0001c0038t0001g0076 a0001c0064t0001g0055 a0002c0070t0002g0093	3	109	0.0275	35	c.244 others(56): Show c.2446-12990_2446-12989insTCTTTCTTTCTTTTCTTTTCTTTC TTTCTTTCTTT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347832	G G	GCCTTCCC others(28): Show GCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03710.hp1 HG02572.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0001 a0001c0015t0001 a0001c0007t0001 a0001c0015t0001	a0001c0007t0001g0085 a0001c0015t0001g0127 a0001c0007t0001g0085 a0001c0015t0001g0127	2	94	0.0213	35	c.322 others(54): Show c.3224+4104_3224+4138dupTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCC		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK2_chr5_169632275_170088382	169792402	T T	TATATATT others(28): Show TATATATTTTATATATGTATACATGTATATGTGTAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0042 a0001c0004 a0001c0042	a0001c0004t0001 a0001c0042t0002 a0001c0004t0001 a0001c0042t0002	a0001c0004t0001g0145 a0001c0042t0002g0117 a0001c0004t0001g0145 a0001c0042t0002g0117	2	182	0.0110	35	c.255 others(56): Show c.2555-10638_2555-10604dupATACATGTATATGTGTACATATAT TTTATATATGT		DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	25/51					INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK4_chr7_111721110_112211399	112159815	A A	AATACATA others(28): Show AATACATAATATTATGTATATATATACATAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 NA19030.hp2 HG02258.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0072 a0001c0002t0002g0070 a0001c0004t0001g0012 a0001c0001t0001g0072 a0001c0002t0002g0070 a0001c0004t0001g0012	3	106	0.0283	35	c.37+ others(52): Show c.37+46252_37+46286dupATATATTATGTATATATATACATAATAT TATGTAT		DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52						chr7	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(28): Show CCTCCACCATCACCACCACCACCACCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0004 a0004c0038t0004	a0004c0038t0004g0056 a0004c0038t0004g0056	1	68	0.0147	35	c.323 others(54): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCACCACCTC CACCATCAC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTTCACC others(28): Show CCTTCACCATCACCACCACCACCACCTCCACTATCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02895.hp1 others(1): Show HG01884.hp1 HG02109.hp2 HG02895.hp1 HG02897.hp2	a0002 a0007 a0002 a0007	a0002c0019 a0002c0110 a0007c0109 a0002c0019 a0002c0110 a0007c0109	a0002c0019t0003 a0002c0110t0002 a0007c0109t0002 a0002c0019t0003 a0002c0110t0002 a0007c0109t0002	a0002c0019t0003g0038 a0002c0019t0003g0039 a0002c0110t0002g0040 others(1): Show a0002c0019t0003g0038 a0002c0019t0003g0039 a0002c0110t0002g0040 a0007c0109t0002g0094	4	71	0.0563	35	c.323 others(54): Show c.3234+1214_3234+1215insTTCACCATCACCACCACCACCACCTC CACTATCAC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGGAGG others(28): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA19088.hp1 HG00673.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	199	0.0101	35	c.69 others(46): Show c.6974_*6975insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C		DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding					4895		chr5	TogoVar
DOK6_chr18_69395888_69854087	69432869	G G	GAATTAAG others(28): Show GAATTAAGCTAAGGAGTTGCCCCCTAGGATTTCATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0141 a0001c0002t0006g0141	1	168	0.0060	35	c.66+ others(52): Show c.66+31561_66+31595dupATTAAGCTAAGGAGTTGCCCCCTAGGAT TTCATTA		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA20905.hp2 NA18985.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0278 a0001c0001t0001g0279	2	41	0.0488	35	c.964 others(50): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9						chr21	TogoVar
DPEP3_chr16_67970663_67985499	67980836	T T	TATTTCAT others(28): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	84	0.0119	35	c.-45 others(44): Show c.-457_-456insGAAATGAAATGAAATGAAATGAAATGAAATGAAAT		DPEP3	ENSG00000141096.6	transcript	ENST00000268793.6	protein_coding					338		chr16	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(28): Show AAGAAAGAAAGAAAGAAAGAAAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0044 a0001c0001t0008g0044	1	208	0.0048	35	c.194 others(52): Show c.194-3558_194-3557insCTTCTCTTCTCTTCTTTCTTTCTTTCTT TCTTTCT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPF3_chr14_72604034_72899101	72756931	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	230	0.0043	35	c.194 others(52): Show c.194-3561_194-3560insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	55	0.0182	35	c.312 others(54): Show c.312+41706_312+41707insATATATATATATATATATTTTTTTTT TTTTTTTTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPM1_chr20_50929870_50963532	50941358	T T	TATATTCA others(28): Show TATATTCATATACATATATTCATATTATATATATTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01358.hp2 others(5): Show HG01106.hp1 HG01243.hp1 HG01358.hp2 HG02109.hp2 HG02809.hp1 HG02965.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0002t0001g0057 a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0002t0001g0057	8	357	0.0224	35	c.495 others(50): Show c.495-426_495-425insGAATATATATAATATGAATATATGTATATG AATAT		DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	6/8						chr20	TogoVar
DPP9_chr19_4670227_4728842	4672256	T T	TATATTCA others(28): Show TATATTCATATATTCATATTACTTATATATATATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	309	0.0032	35	c.43 others(46): Show c.4307_*4308insGAATATATATATAAGTAATATGAATATATGAATA T		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					2970		chr19	TogoVar
DPT_chr1_168690468_168734206	168725215	A A	ATTCCTTT others(28): Show ATTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(46): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18963.hp2 NA18971.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19076.hp2 NA19079.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0003t0005 a0001c0003t0014 a0001c0005t0001 a0001c0006t0003 a0001c0013t0014 a0002c0004t0002	a0001c0001t0001g0204 a0001c0001t0001g0243 a0001c0001t0001g0245 others(33): Show a0001c0001t0001g0204 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0003g0137 a0001c0001t0004g0045 a0001c0001t0004g0167 a0001c0001t0004g0275 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0002t0002g0090 a0001c0002t0004g0089 a0001c0003t0005g0048 a0001c0003t0005g0159 a0001c0003t0005g0160 a0001c0003t0005g0162 a0001c0003t0014g0161 a0001c0005t0001g0011 a0001c0005t0001g0132 a0001c0005t0001g0133 a0001c0006t0003g0176 a0001c0013t0014g0077 a0002c0004t0002g0035 a0002c0004t0002g0063 a0002c0004t0002g0064 a0002c0004t0002g0065 a0002c0004t0002g0066 a0002c0004t0002g0067	49	172	0.2849	35	c.305 others(52): Show c.305+3620_305+3654dupAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAA		DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3						chr1	TogoVar
DPT_chr1_168690468_168734206	168725253	C C	CCTTTCCT others(28): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp1 HG02630.hp2 NA18522.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0008 a0008c0015t0001 a0001c0001t0008 a0008c0015t0001	a0001c0001t0008g0156 a0008c0015t0001g0299 a0001c0001t0008g0156 a0008c0015t0001g0299	2	429	0.0047	35	c.305 others(52): Show c.305+3616_305+3617insTAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAG		DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3						chr1	TogoVar
DPYD_chr1_97072743_97926034	97169523	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0039 a0004c0004t0003g0039	1	4	0.2500	35	c.262 others(56): Show c.2622+23511_2622+23545dupTAAAATAAAATAAAATAAAATAAA ATAAAATAAAA		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22						chr1	TogoVar
DPYD_chr1_97072743_97926034	97887469	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	6	0.1667	35	c.40- others(50): Show c.40-4096_40-4095insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	1/22						chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(28): Show ATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0093 a0001c0019t0010g0093	1	248	0.0040	35	c.355 others(54): Show c.355-25607_355-25606insGTATATATATATAGTATATATATAGT ATATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	303	0.0033	35	c.672 others(50): Show c.672+115_672+116insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
DRD4_chr11_632269_645706	645340	A A	AGAGTTTC others(28): Show AGAGTTTCGCTCTTGTTTCCCAGGCTGGAGTGTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	35	c.47 others(46): Show c.4737_*4738insGAGTTTCGCTCTTGTTTCCCAGGCTGGAGTGTAA C		DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding					4635		chr11	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0065	1	259	0.0039	35	c.342 others(52): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATTTT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATGCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp1 HG01884.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0027 a0001c0007t0001g0028 a0001c0007t0001g0027 a0001c0007t0001g0028	2	260	0.0077	35	c.342 others(52): Show c.3420-521_3420-520insGTGCATATATATATATATATATATATAT ATATATT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATGCACC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	112	0.0089	35	c.342 others(52): Show c.3420-522_3420-521insGGTGCATATATATATATATATATATATA TATATAT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar

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