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
DCDC1_chr11_30858603_31374739	31250415	C C	CACACACA others(31): Show CACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19070.hp1 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0071 a0001c0002t0002g0072	2	115	0.0174	38	c.105 others(57): Show c.1055-8800_1055-8799insATATATATATATATATGTGTGTGTGT GTGTGTGTGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCHS1_chr11_6616330_6660809	6655824	C C	CCCCCTCC others(31): Show CCCCCTCCCCTCCCCTCCCCTCCCCCCGCCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG02145.hp1 others(8): Show HG00639.hp1 HG00738.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG03225.hp2 NA20300.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0014	a0001c0001 a0001c0006 a0002c0004 others(3): Show a0001c0001 a0001c0006 a0002c0004 a0008c0016 a0009c0014 a0014c0053	a0001c0001t0002 a0001c0006t0001 a0002c0004t0001 others(3): Show a0001c0001t0002 a0001c0006t0001 a0002c0004t0001 a0008c0016t0001 a0009c0014t0001 a0014c0053t0001	a0001c0001t0002g0001 a0001c0006t0001g0013 a0001c0006t0001g0091 others(6): Show a0001c0001t0002g0001 a0001c0006t0001g0013 a0001c0006t0001g0091 a0002c0004t0001g0028 a0002c0004t0001g0099 a0002c0004t0001g0103 a0008c0016t0001g0101 a0009c0014t0001g0100 a0014c0053t0001g0063	11	164	0.0671	38	c.-38 others(47): Show c.-383_-382insAGGGGAGGGGGCGGGGGGAGGGGAGGGGAGGGGAGG GG	DCHS1	ENSG00000166341.9	transcript	ENST00000299441.5	protein_coding		16		chr11	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0216 a0001c0008t0008g0216	1	194	0.0052	38	c.140 others(57): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCP2_chr5_112971798_113027195	112984699	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	284	0.0035	38	c.54- others(53): Show c.54-1135_54-1134insTATATATATATATATATATATATATATATA TATATATA	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DCP2_chr5_112971798_113027195	112984722	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0139 a0001c0001t0012g0139	1	361	0.0028	38	c.54- others(53): Show c.54-1110_54-1109insATATATATATATATATATATATATATATAT ATATTTAT	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	67	0.0149	38	c.12 others(51): Show c.12593_*12594insTATATATATATATAGAGAGAGAGAGAGAGAGA GAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 NA18981.hp2 HG03239.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0043 a0001c0001t0042 a0001c0001t0043	a0001c0001t0042g0226 a0001c0001t0043g0219 a0001c0001t0042g0226 a0001c0001t0043g0219	2	68	0.0294	38	c.12 others(51): Show c.12593_*12594insTATATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03834.hp2 HG01891.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0024 a0001c0001t0025g0039 a0001c0001t0003g0024 a0001c0001t0025g0039	2	68	0.0294	38	c.12 others(51): Show c.12593_*12594insTATAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DDX11_chr12_31068860_31109799	31093720	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	192	0.0052	38	c.136 others(55): Show c.1369+420_1369+421insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02976.hp2 NA18941.hp2 HG01496.hp2 HG02976.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0182 a0001c0001t0002g0038 a0001c0001t0004g0350 a0001c0001t0001g0182 a0001c0001t0002g0038 a0001c0001t0004g0350	3	130	0.0231	38	c.144 others(55): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX51_chr12_132131594_132149319	132149004	C C	CACACCAC others(31): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0030 a0004c0004t0006g0030	1	321	0.0031	38	c.-47 others(49): Show c.-4709_-4708insCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4686		chr12	TogoVar
DDX60L_chr4_168351735_168485492	168361426	G G	GAGGGGAT others(31): Show GAGGGGATAGAGGGTGACTATGTATCAAGTGGGTAGATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0022 a0006c0006t0003g0022	1	266	0.0038	38	c.492 others(55): Show c.4929-216_4929-215insTATCTACCCACTTGATACATAGTCACCC TCTATCCCCT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	36/37			chr4	TogoVar
DEFB105A_chr8_7816004_7828880	7827275	C C	CATATAGT others(31): Show CATATAGTATAGTGTATTATACTAGTATAATACACTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01952.hp2 HG02015.hp1 others(11): Show HG01256.hp1 HG01952.hp2 HG02015.hp1 HG02258.hp2 HG02451.hp2 NA18944.hp1 NA18966.hp1 NA18992.hp2 NA19003.hp2 NA19005.hp2 NA19064.hp2 NA19067.hp2 NA19090.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0003 a0002c0002t0007 others(1): Show a0001c0001t0011 a0002c0002t0003 a0002c0002t0007 a0002c0002t0015	a0001c0001t0011g0015 a0002c0002t0003g0004 a0002c0002t0003g0017 others(2): Show a0001c0001t0011g0015 a0002c0002t0003g0004 a0002c0002t0003g0017 a0002c0002t0007g0007 a0002c0002t0015g0018	14	108	0.1296	38	c.-34 others(49): Show c.-3438_-3437insACTAGTGTATTATACTAGTATAATACACTATACT ATAT	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		3396		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7827275	C C	CATATAGT others(31): Show CATATAGTATAGTGTATTATACTAGTATAATACACTAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01099.hp2 others(23): Show HG00099.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp2 HG01517.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG03130.hp2 HG03710.hp2 NA18944.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA19005.hp2 NA19010.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048	26	119	0.2185	38	c.50- others(53): Show c.50-1514_50-1513insTATACTAGTATAATACACTAGTATATAGTA TAGTGTAT	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03225.hp1 NA19043.hp2 others(1): Show HG00323.hp2 HG03225.hp1 NA19043.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0038 a0001c0001t0002g0095 a0003c0002t0002g0111 a0001c0001t0002g0038 a0001c0001t0002g0095 a0003c0002t0002g0111	4	200	0.0200	38	c.59- others(51): Show c.59-944_59-943insATATATATATATATATATATATATATATATAT ATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001892	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	406	0.0025	38	c.-12 others(49): Show c.-1233_-1232insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1141		chr8	TogoVar
DENND11_chr7_141651728_141707166	141674230	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	308	0.0032	38	c.528 others(51): Show c.528-11_528-10insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	3/8			chr7	TogoVar
DENND1A_chr9_123374658_123935126	123495135	G G	GTCTCTCT others(31): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0127 a0001c0001t0012g0127	1	157	0.0064	38	c.994 others(57): Show c.994-37239_994-37238insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02602.hp2 HG02886.hp1 HG02040.hp2 HG02602.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0002t0016 a0001c0001t0003 a0001c0002t0003 a0001c0002t0016	a0001c0001t0003g0076 a0001c0002t0003g0003 a0001c0002t0016g0089 a0001c0001t0003g0076 a0001c0002t0003g0003 a0001c0002t0016g0089	3	23	0.1304	38	c.994 others(57): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711501	A A	ATGTATAT others(31): Show ATGTATATATGTATATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	157	0.0064	38	c.303 others(57): Show c.303-34713_303-34712insCATATATACATATATATATATATATA TACATATATACA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND2B_chr11_8688352_8815674	8748624	G G	GGGAGGGA others(31): Show GGGAGGGAAGGAAGGAGAGAAGCGGAAATGTGGTAGGTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02723.hp2 HG02976.hp2 others(1): Show HG01943.hp1 HG02723.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0001t0001 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0007t0001g0344 others(1): Show a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0007t0001g0344 a0001c0007t0001g0345	4	350	0.0114	38	c.80+ others(53): Show c.80+1996_80+1997insTACCTACCACATTTCCGCTTCTCTCCTTCC TTCCCTCC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	2/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8771529	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0034 a0001c0007t0002g0034	1	95	0.0105	38	c.-25 others(57): Show c.-25-20842_-25-20805dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG00741.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0246 a0001c0001t0002g0330 a0001c0001t0001g0246 a0001c0001t0002g0330	2	277	0.0072	38	c.-25 others(57): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND3_chr8_141123589_141200804	141188036	A A	ACATCAGC others(31): Show ACATCAGCCAGGCGTGGTGGCATCAGCCAGGCGTGGTGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 NA18522.hp2 others(2): Show HG02723.hp1 HG03209.hp2 NA18522.hp2 NA18906.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0001c0042 a0002c0001 others(1): Show a0001c0013 a0001c0042 a0002c0001 a0002c0026	a0001c0013t0002 a0001c0042t0008 a0002c0001t0001 others(1): Show a0001c0013t0002 a0001c0042t0008 a0002c0001t0001 a0002c0026t0008	a0001c0013t0002g0318 a0001c0042t0008g0010 a0002c0001t0001g0083 others(1): Show a0001c0013t0002g0318 a0001c0042t0008g0010 a0002c0001t0001g0083 a0002c0026t0008g0082	5	270	0.0185	38	c.308 others(55): Show c.3085-929_3085-892dupATCAGCCAGGCGTGGTGGCATCAGCCAG GCGTGGTGGC	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	17	0.0588	38	c.158 others(57): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATATATAAA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	180	0.0056	38	c.949 others(55): Show c.949+4600_949+4601insATTATTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02523.hp1 NA18980.hp1 others(3): Show HG01928.hp2 HG02523.hp1 NA18980.hp1 NA18985.hp1 NA19009.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0116 a0002c0002t0001g0129 a0002c0002t0001g0137 others(3): Show a0002c0002t0001g0116 a0002c0002t0001g0129 a0002c0002t0001g0137 a0002c0002t0002g0032 a0002c0002t0002g0062 a0002c0002t0002g0104	6	185	0.0324	38	c.949 others(55): Show c.949+4600_949+4601insATTATTATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01258.hp1 HG01361.hp1 others(19): Show HG00099.hp1 HG01258.hp1 HG01361.hp1 HG01943.hp2 HG01978.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp2 HG03492.hp2 HG03579.hp1 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18944.hp2 NA18960.hp2 NA18978.hp1 NA19063.hp1 NA19084.hp2 NA19085.hp2 NA20752.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014	a0002c0002t0001g0060 a0002c0002t0001g0066 a0002c0002t0001g0073 others(19): Show a0002c0002t0001g0060 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0101 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0114 a0002c0002t0002g0080 a0002c0002t0002g0115 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0138 a0002c0002t0002g0154 a0002c0002t0006g0002 a0002c0002t0008g0102 a0002c0002t0012g0092 a0002c0002t0014g0153	22	201	0.1095	38	c.949 others(55): Show c.949+4600_949+4601insATTATTATTATTTTTTTTTTTTTTTTTT TTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01255.hp2 others(13): Show HG00673.hp2 HG00741.hp1 HG01255.hp2 HG01433.hp1 HG01934.hp2 HG02129.hp2 HG02602.hp2 HG02818.hp1 HG03225.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG04184.hp1 NA18973.hp1 NA19003.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0011 a0001c0004 a0002c0002 a0002c0011	a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0011t0002	a0001c0004t0003g0037 a0001c0004t0003g0148 a0002c0002t0001g0075 others(13): Show a0001c0004t0003g0037 a0001c0004t0003g0148 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0112 a0002c0002t0002g0121 a0002c0002t0002g0132 a0002c0002t0002g0135 a0002c0002t0004g0009 a0002c0002t0008g0133 a0002c0011t0002g0203	16	195	0.0821	38	c.949 others(55): Show c.949+4600_949+4601insATTATTATTATTATTTTTTTTTTTTTTT TTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENR_chr12_122747824_122776064	122769162	A A	ATATACAC others(31): Show ATATACACATATATATGTATATATACACATATATGTATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0015 a0001c0001t0040g0015	1	362	0.0028	38	c.97 others(46): Show c.97_*134dupTATGTATATATACACATATATGTATGTATACACATAT A	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding	8/8	135	INFO_REALIGN_3_PRIME	chr12	TogoVar
DENR_chr12_122747824_122776064	122769251	T T	TACATATA others(31): Show TACATATATACATACACATATATGTATACATATATACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	83	0.0120	38	c.17 others(47): Show c.174_*175insCATATATACATACACATATATGTATACATATATACA CA	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding	8/8	175	INFO_REALIGN_3_PRIME	chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60667914	A A	ATGGATAT others(31): Show ATGGATATTTTATATATATAAAATGGATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	270	0.0037	38	c.314 others(57): Show c.314+19047_314+19048insATATATATAATATCCATTTTATATAT ATAAAATATCCA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0171 a0001c0002t0006g0171	1	101	0.0099	38	c.333 others(57): Show c.3330+3092_3330+3093insATATATATATATATATATATATATAT ATATATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31864506	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG06807.hp1 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0007 a0001c0002t0006 a0001c0002t0007	a0001c0002t0006g0172 a0001c0002t0007g0170 a0001c0002t0006g0172 a0001c0002t0007g0170	2	202	0.0099	38	c.333 others(57): Show c.3330+3092_3330+3093insATATATATATATATATATTTATATAT ATATATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31902408	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02615.hp1 HG03831.hp1 HG02004.hp1 HG02615.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0003 a0001c0002t0003 a0001c0008t0003	a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0008t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0008t0003g0178	3	41	0.0732	38	c.443 others(55): Show c.4436+634_4436+635insTATATATATATATATATATATATATATA TATATATATA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03486.hp2 HG03017.hp2 HG03486.hp2	a0003 a0007 a0003 a0007	a0003c0008 a0007c0013 a0003c0008 a0007c0013	a0003c0008t0002 a0007c0013t0019 a0003c0008t0002 a0007c0013t0019	a0003c0008t0002g0024 a0007c0013t0019g0198 a0003c0008t0002g0024 a0007c0013t0019g0198	2	43	0.0465	38	c.791 others(53): Show c.791-185_791-184insAAAAAATATATATATATATATATATATATA TATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02027.hp2 HG01952.hp1 HG02027.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0021 a0003c0004t0002 a0003c0004t0021	a0003c0004t0002g0165 a0003c0004t0021g0158 a0003c0004t0002g0165 a0003c0004t0021g0158	2	43	0.0465	38	c.791 others(53): Show c.791-185_791-184insAATATATATATATATATATATATATATATA TATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(31): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03927.hp1 HG04115.hp1 others(3): Show HG01952.hp1 HG03927.hp1 HG04115.hp1 NA18960.hp2 NA19079.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0002 a0002c0002t0017	a0002c0002t0002g0155 a0002c0002t0002g0158 a0002c0002t0002g0178 others(3): Show a0002c0002t0002g0155 a0002c0002t0002g0158 a0002c0002t0002g0178 a0002c0002t0017g0147 a0002c0002t0017g0175 a0002c0002t0017g0182	6	142	0.0423	38	c.625 others(53): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02896.hp1 HG02165.hp2 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0044 a0001c0002t0002g0002 a0001c0002t0002g0044	2	36	0.0556	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCGCGCACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGCGCGCGCTGCCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCGGCAGCGCGCGCACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01981.hp1 HG02486.hp2 others(1): Show HG00544.hp1 HG01981.hp1 HG02486.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	4	38	0.1053	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGCGCGCTGCAGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCTGCAGCGCGCACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG01891.hp2 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	36	0.0556	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG01884.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	36	0.0556	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01167.hp2 HG01169.hp1 others(10): Show HG00597.hp2 HG01167.hp2 HG01169.hp1 HG02056.hp1 HG02083.hp2 HG03942.hp1 NA18962.hp2 NA18978.hp1 NA18993.hp1 NA19066.hp2 NA19079.hp2 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	13	47	0.2766	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	38	c.-28 others(49): Show c.-2845_-2844insGCGCGCGCGCGCGCGCGCGCACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGCGCGCTGCGCGGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCCGCGCAGCGCGCACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG04204.hp2 HG02257.hp1 HG02257.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0001g0001 a0001c0001t0002g0006	3	37	0.0811	38	c.-28 others(49): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp2 others(21): Show HG00099.hp1 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01361.hp2 HG02129.hp1 HG02148.hp1 HG02486.hp1 HG02683.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03704.hp1 NA18747.hp1 NA18947.hp2 NA18977.hp1 NA18985.hp1 NA18986.hp2 NA19086.hp1 NA19088.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0005	a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0002t0002g0002 a0002c0003t0002g0004 a0005c0005t0001g0036	24	58	0.4138	38	c.-28 others(49): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC ACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar

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