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
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03927.hp1 HG04184.hp2 others(1): Show HG02056.hp2 HG03927.hp1 HG04184.hp2 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0016 a0001c0001 a0001c0019 a0002c0016	a0001c0001t0001 a0001c0019t0001 a0002c0016t0003 a0001c0001t0001 a0001c0019t0001 a0002c0016t0003	a0001c0001t0001g0069 a0001c0001t0001g0247 a0001c0019t0001g0172 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0247 a0001c0019t0001g0172 a0002c0016t0003g0025	4	141	0.0284	22	c.195 others(39): Show c.1959+611_1959+612insAAAATATATATATATATATATA		DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19						chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp2 HG03654.hp1 HG03942.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0002 a0001c0001t0001 a0003c0010t0002	a0001c0001t0001g0166 a0003c0010t0002g0021 a0001c0001t0001g0166 a0003c0010t0002g0021	2	139	0.0144	22	c.195 others(39): Show c.1959+611_1959+612insAAAAAATATATATATATATATA		DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19						chr7	TogoVar
DENND2B_chr11_8688352_8815674	8754029	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 NA20129.hp2 HG02922.hp1 NA18906.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0178 a0003c0002t0001g0047 a0003c0002t0001g0048 a0001c0001t0001g0178 a0003c0002t0001g0047 a0003c0002t0001g0048	3	22	0.1364	22	c.-25 others(39): Show c.-25-3305_-25-3304insTGTGTGTGTGTGTGTGTGTGCG		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8754029	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02976.hp2 HG01943.hp1 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0344 a0001c0007t0001g0345 a0001c0007t0001g0344 a0001c0007t0001g0345	2	21	0.0952	22	c.-25 others(39): Show c.-25-3305_-25-3304insTGTGTGTGTGTGCGCGCGCGCG		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03834.hp2 NA18979.hp2 others(1): Show HG02717.hp1 HG03834.hp2 NA18979.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0329 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0329 a0001c0001t0003g0315	4	279	0.0143	22	c.-25 others(41): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTC		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8776146	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	293	0.0034	22	c.-25 others(41): Show c.-25-25422_-25-25421insTGTGTGTGTGTGTGTGTGTGTG		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8806603	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0218 a0002c0003t0002g0218	1	349	0.0029	22	c.-26 others(39): Show c.-26+3913_-26+3914insGTGTGTGTGTGTGTGTGTGTGT		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8806605	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01175.hp1 others(42): Show HG00280.hp2 HG00323.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01993.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02572.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA18953.hp2 NA18956.hp1 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19062.hp1 NA19064.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0007 a0002c0003 others(5): Show a0001c0001 a0001c0007 a0002c0003 a0003c0002 a0004c0004 a0005c0005 a0006c0006 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0002 a0002c0003t0001 a0002c0003t0002 a0003c0002t0001 a0003c0002t0002 a0004c0004t0001 a0005c0005t0002 a0006c0006t0001 a0007c0008t0001	a0001c0001t0001g0032 a0001c0001t0001g0178 a0001c0001t0002g0033 others(42): Show a0001c0001t0001g0032 a0001c0001t0001g0178 a0001c0001t0002g0033 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0177 a0001c0001t0002g0283 a0001c0001t0003g0230 a0001c0001t0004g0231 a0001c0007t0002g0034 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0242 a0002c0003t0002g0113 a0002c0003t0002g0130 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0239 a0002c0003t0002g0244 a0002c0003t0002g0276 a0003c0002t0001g0077 a0003c0002t0001g0081 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0145 a0003c0002t0001g0240 a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0085 a0003c0002t0002g0086 a0004c0004t0001g0080 a0005c0005t0002g0238 a0006c0006t0001g0144 a0007c0008t0001g0028 a0007c0008t0001g0031	45	69	0.6522	22	c.-26 others(39): Show c.-26+3890_-26+3911dupGTGTGTGTGTGTGTGTGTGTGT		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19						chr11	TogoVar
DENND2C_chr1_114577850_114675049	114655878	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	213	0.0047	22	c.-57 others(41): Show c.-573-1118_-573-1117insTATATATATATATATATATATA		DENND2C	ENSG00000175984.16	transcript	ENST00000393274.6	protein_coding	1/20						chr1	TogoVar
DENND4A_chr15_65654123_65797293	65676141	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG02027.hp2 others(22): Show HG00642.hp2 HG00673.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18964.hp2 NA18965.hp1 NA18977.hp2 NA18994.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19091.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0021 a0009c0012 a0001c0001 a0001c0021 a0009c0012	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0021t0001 a0009c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0012g0033 a0001c0001t0016g0001 a0001c0021t0001g0042 a0009c0012t0001g0009	25	187	0.1337	22	c.436 others(39): Show c.4369+282_4369+303dupATATATATATATATATATATAT		DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	24/32						chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp1 others(13): Show HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG02809.hp1 HG03225.hp2 HG04184.hp1 HG04184.hp2 NA19000.hp2 NA19003.hp1 NA19011.hp1 NA19065.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0001c0001t0027 a0001c0002t0002 a0001c0005t0007 a0002c0003t0005	a0001c0001t0002g0238 a0001c0001t0007g0139 a0001c0001t0018g0121 others(13): Show a0001c0001t0002g0238 a0001c0001t0007g0139 a0001c0001t0018g0121 a0001c0001t0027g0229 a0001c0002t0002g0199 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0002g0266 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0286 a0001c0005t0007g0135 a0002c0003t0005g0303	16	32	0.5000	22	c.158 others(41): Show c.1588+1879_1588+1900dupTATATATATATATATATATATA		DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32						chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTCTATAT others(15): Show TTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0113 a0001c0001t0018g0113	1	17	0.0588	22	c.158 others(41): Show c.1588+1900_1588+1901insTATATATATATATATATATAGA		DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32						chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0106 a0001c0010t0004g0106	1	17	0.0588	22	c.158 others(41): Show c.1588+1900_1588+1901insTATATATATATATATATATAAA		DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32						chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720965	A A	ATACAAAT others(15): Show ATACAAATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	301	0.0033	22	c.158 others(41): Show c.1588+1882_1588+1883insCATATACATATACATATTTGTA		DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32						chr15	TogoVar
DENND4C_chr9_19225693_19379281	19356788	T T	TGTGAGAG others(15): Show TGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG02145.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0167 a0001c0002t0002g0163 a0001c0002t0002g0167	2	217	0.0092	22	c.478 others(39): Show c.4782-183_4782-182insTGAGAGAGAGAGAGAGAGAGAG		DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	26/32					INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND4C_chr9_19225693_19379281	19356788	T T	TGTGTGAG others(15): Show TGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02818.hp1 others(3): Show HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0017 a0001c0002t0023 a0001c0002t0013 a0001c0002t0017 a0001c0002t0023	a0001c0002t0013g0001 a0001c0002t0013g0014 a0001c0002t0017g0011 others(2): Show a0001c0002t0013g0001 a0001c0002t0013g0014 a0001c0002t0017g0011 a0001c0002t0017g0012 a0001c0002t0023g0013	6	221	0.0271	22	c.478 others(39): Show c.4782-183_4782-182insTGTGAGAGAGAGAGAGAGAGAG		DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	26/32					INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND4C_chr9_19225693_19379281	19356810	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19240.hp1 HG02738.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0014 a0004c0005t0002 a0001c0002t0014 a0004c0005t0002	a0001c0002t0014g0152 a0004c0005t0002g0121 a0001c0002t0014g0152 a0004c0005t0002g0121	2	240	0.0083	22	c.478 others(39): Show c.4782-155_4782-154insAGAGAGAGAGAGAGTGAGAGAG		DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	26/32					INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND5B_chr12_31377226_31596136	31545950	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18949.hp2 HG03492.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0253 a0001c0001t0006g0290 a0001c0001t0006g0253 a0001c0001t0006g0290	2	33	0.0606	22	c.127 others(41): Show c.127+44755_127+44756insTTTTTTTTTTTTTTTTTTTTTT		DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20						chr12	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(15): Show GGAGGGGGGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	120	0.0083	22	c.43 others(33): Show c.4365_*4366insTTCCCCCTCCCCCTCCCCCCTC		DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding					1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307818	A A	AGTGAGGG others(15): Show AGTGAGGGGGAGGGGAGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	323	0.0031	22	c.43 others(33): Show c.4320_*4321insCCCCCTCTCCCCTCCCCCTCAC		DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding					1211		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317123	G G	GAGGACAG others(15): Show GAGGACAGGGTGGGGGGGCGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02071.hp1 HG02109.hp1 others(26): Show HG01891.hp1 HG02071.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18993.hp2 NA19240.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0001c0006 a0007c0023 a0001c0004 a0001c0006 a0007c0023	a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 others(3): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0001c0006t0047 a0007c0023t0004	a0001c0004t0003g0172 a0001c0004t0004g0005 a0001c0004t0004g0171 others(25): Show a0001c0004t0003g0172 a0001c0004t0004g0005 a0001c0004t0004g0171 a0001c0004t0004g0177 a0001c0004t0004g0178 a0001c0004t0004g0179 a0001c0004t0004g0180 a0001c0004t0004g0182 a0001c0004t0004g0183 a0001c0004t0004g0184 a0001c0004t0004g0185 a0001c0004t0004g0186 a0001c0004t0004g0187 a0001c0004t0004g0190 a0001c0004t0004g0262 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0004t0004g0312 a0001c0004t0004g0313 a0001c0004t0004g0314 a0001c0004t0004g0315 a0001c0004t0026g0188 a0001c0006t0004g0173 a0001c0006t0004g0174 a0001c0006t0004g0175 a0001c0006t0004g0189 a0001c0006t0047g0170 a0007c0023t0004g0181	29	322	0.0901	22	c.453 others(37): Show c.453+148_453+169dupTGCCGCCCCCCCACCCTGTCCT		DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19						chr22	TogoVar
DENR_chr12_122747824_122776064	122750627	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01516.hp2 others(13): Show HG00621.hp1 HG00639.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG02056.hp2 HG02523.hp1 HG02738.hp2 NA18948.hp2 NA18971.hp2 NA18982.hp1 NA18995.hp1 NA19080.hp2 NA19084.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0004g0093 a0001c0001t0039g0001 a0001c0003t0001g0001	16	94	0.1702	22	c.-23 others(33): Show c.-2333_-2332insAAAAAAAAAAAAAAAAAAAAAA		DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding					2196		chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60667960	T T	TAAAATGG others(15): Show TAAAATGGATATTATATATATAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18967.hp2 NA18962.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0089 a0001c0001t0001g0092	2	220	0.0091	22	c.314 others(41): Show c.314+19001_314+19002insTTATATATATAATATCCATTTT		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668087	A A	ATATATAT others(15): Show ATATATATATAAAATGCATATTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	286	0.0035	22	c.314 others(41): Show c.314+18874_314+18875insAAATATGCATTTTATATATATA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668087	A A	ATATATAT others(15): Show ATATATATATAAAATGGATATTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02809.hp1 NA18983.hp1 HG02129.hp2 HG02809.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0034 a0001c0001t0001g0204 a0001c0001t0001g0222	3	288	0.0104	22	c.314 others(41): Show c.314+18874_314+18875insAAATATCCATTTTATATATATA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668113	A A	ATATATAT others(15): Show ATATATATATAAAATGGATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	286	0.0035	22	c.314 others(41): Show c.314+18848_314+18849insAAATATCCATTTTATATATATA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60677326	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	82	0.0122	22	c.314 others(39): Show c.314+9635_314+9636insAGAGAGAGAGAGAGTGTGTGTG		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18948.hp1 HG00609.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0145 a0001c0001t0001g0110 a0001c0001t0001g0145	2	102	0.0196	22	c.333 others(41): Show c.3330+3071_3330+3092dupATATATATATATATATATATAT		DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42					INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31864530	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	196	0.0051	22	c.333 others(41): Show c.3330+3100_3330+3101insATATATATATATATATATTTAT		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(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0171 a0001c0002t0006g0171	1	39	0.0256	22	c.443 others(39): Show c.4436+613_4436+634dupTATATATATATATATATATATA		DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42					INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119900380	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0019 a0002c0001t0003g0019	1	14	0.0714	22	c.122 others(41): Show c.122+26415_122+26436dupTTTTTTTTTTTTTTTTTTTTTT		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
DERL3_chr22_23829503_23844006	23830649	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	34	0.0294	22	c.61 others(33): Show c.6198_*6219dupAAAAAAAAAAAAAAAAAAAAAA		DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding					3853		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(15): Show TGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG02257.hp2 others(2): Show HG01106.hp2 HG01175.hp2 HG02257.hp2 HG03098.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0153 a0001c0001t0002g0018	5	242	0.0207	22	c.67 others(33): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCC		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594355	C C	CGGTGGGG others(15): Show CGGTGGGGGCGGGTGGTGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG03209.hp1 others(2): Show HG02257.hp1 HG02630.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0027 a0001c0001t0011 a0001c0001t0027	a0001c0001t0011g0037 a0001c0001t0011g0209 a0001c0001t0011g0210 others(2): Show a0001c0001t0011g0037 a0001c0001t0011g0209 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0027g0208	5	306	0.0163	22	c.67 others(33): Show c.6741_*6742insCCCGCCACCACCCGCCCCCACC		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3672		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594358	T T	TGGGGGGG others(15): Show TGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	272	0.0037	22	c.67 others(33): Show c.6738_*6739insCACCGCCTCCCCCACCCCCCCC		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3669		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594377	G G	GTGGGGGG others(15): Show GTGGGGGGGGTGGGGGAGGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0084 a0001c0001t0026g0084	1	306	0.0033	22	c.67 others(33): Show c.6719_*6720insACCGCCTCCCCCACCCCCCCCA		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3650		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594378	T T	TGGGGGGG others(15): Show TGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	277	0.0036	22	c.67 others(33): Show c.6718_*6719insCACCGCCTCCCCCACCCCCCCC		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3649		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594378	T T	TGGGGGGG others(15): Show TGGGGGGGTGGGGGAGGCGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	277	0.0036	22	c.67 others(33): Show c.6718_*6719insCCACCGCCTCCCCCACCCCCCC		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3649		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594386	T T	TGGGGGAG others(15): Show TGGGGGAGGCGGTGGGGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	301	0.0033	22	c.67 others(33): Show c.6710_*6711insCACCCCCCCCACCGCCTCCCCC		DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding					3641		chr22	TogoVar
DESI2_chr1_244648126_244714033	244713908	G G	GACAGTCC others(15): Show GACAGTCCTCAACCTCCGCCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	358	0.0028	22	c.81 others(33): Show c.8119_*8120insACAGTCCTCAACCTCCGCCAGA		DESI2	ENSG00000121644.19	transcript	ENST00000302550.16	protein_coding					4876		chr1	TogoVar
DEUP1_chr11_93325742_93443470	93392920	T T	TCTCCTCC others(15): Show TCTCCTCCCTCCTCTTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	246	0.0041	22	c.104 others(41): Show c.1042-1513_1042-1492dupCTCCCTCCTCTTCCTCCTCCTC		DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
DGCR6L_chr22_20309238_20325060	20322829	G G	GTGCGCGC others(15): Show GTGCGCGCGCTCGCGCGCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	22	c.-28 others(33): Show c.-2842_-2841insTGCGCGCGCGCGAGCGCGCGCA		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2770		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	22	c.-28 others(33): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGCGCG others(15): Show TGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG02145.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	36	0.0556	22	c.-28 others(33): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(15): Show TGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	35	0.0286	22	c.-28 others(33): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(15): Show TGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	36	0.0556	22	c.-28 others(33): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20108945	C C	CCAACCTG others(15): Show CCAACCTGCACATCCTCAGCAAG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0004 a0008c0010t0002g0004	1	418	0.0024	22	c.218 others(31): Show c.2182_2203dupAACCTGCACATCCTCAGCAAGC	p.Leu others(5): Show p.Leu735fs	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	13/14	2624/4506	2204/2322	735/773		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14177554	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA20300.hp2 HG02135.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0001 a0001c0001t0002 a0001c0016t0001	a0001c0001t0002g0143 a0001c0016t0001g0038 a0001c0001t0002g0143 a0001c0016t0001g0038	2	24	0.0833	22	c.224 others(39): Show c.2243+455_2243+476dupTTTTTTTTTTTTTTTTTTTTTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	24/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211511	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02818.hp1 HG03195.hp1 others(1): Show HG01978.hp2 HG02818.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0003 a0001c0003t0004 a0001c0004t0001 a0001c0002t0003 a0001c0003t0004 a0001c0004t0001	a0001c0002t0003g0081 a0001c0003t0004g0009 a0001c0003t0004g0083 others(1): Show a0001c0002t0003g0081 a0001c0003t0004g0009 a0001c0003t0004g0083 a0001c0004t0001g0103	4	116	0.0345	22	c.212 others(43): Show c.2123-33361_2123-33360insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211683	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0144 a0001c0006t0019g0144	1	101	0.0099	22	c.212 others(43): Show c.2123-33533_2123-33532insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar

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