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
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0047 a0002c0004t0001g0047	1	77	0.0130	35	c.331 others(56): Show c.3319+12136_3319+12137insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0056 a0002c0004t0001g0056	1	98	0.0102	35	c.180 others(52): Show c.180+6647_180+6648insAAAAAAATATATATATATATATATATAT ATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50593732	T T	TCTCCCCT others(28): Show TCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG00735.hp1 others(13): Show HG00597.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01978.hp2 HG02083.hp1 HG02683.hp2 HG03491.hp2 HG03831.hp1 NA18747.hp2 NA18952.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0013 a0003c0009 a0001c0002 a0001c0013 a0003c0009	a0001c0002t0003 a0001c0002t0013 a0001c0002t0018 others(3): Show a0001c0002t0003 a0001c0002t0013 a0001c0002t0018 a0001c0002t0042 a0001c0013t0003 a0003c0009t0013	a0001c0002t0003g0203 a0001c0002t0003g0207 a0001c0002t0003g0218 others(13): Show a0001c0002t0003g0203 a0001c0002t0003g0207 a0001c0002t0003g0218 a0001c0002t0003g0221 a0001c0002t0003g0225 a0001c0002t0003g0232 a0001c0002t0003g0239 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0013g0112 a0001c0002t0018g0226 a0001c0002t0042g0251 a0001c0013t0003g0204 a0003c0009t0013g0113 a0003c0009t0013g0240	16	256	0.0625	35	c.101 others(54): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(28): Show TCTCCTCTCCCCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19070.hp2 NA19086.hp2 NA19002.hp2 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0180 a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0180 a0001c0002t0004g0213 a0001c0002t0004g0214	3	230	0.0130	35	c.101 others(54): Show c.101-32230_101-32229insTCTCCCCTCCTCTCCTCTCCTCTCCC CTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(28): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0278 a0001c0004t0005g0278	1	228	0.0044	35	c.101 others(54): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	594512	G G	GTAAGGGA others(28): Show GTAAGGGAACATGGCCAAGTACAAACCATTTCAACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0082 a0001c0015t0002g0082	1	85	0.0118	35	c.85+ others(52): Show c.85+94981_85+94982insTGTTGAAATGGTTTGTACTTGGCCATGT TCCCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	594512	G G	GTAAGGGA others(28): Show GTAAGGGAACATGGCCGAGTACAAACCATTTCAACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp1 HG02717.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0009 a0001c0002t0001 a0001c0016t0009	a0001c0002t0001g0059 a0001c0016t0009g0073 a0001c0002t0001g0059 a0001c0016t0009g0073	2	86	0.0233	35	c.85+ others(52): Show c.85+94981_85+94982insTGTTGAAATGGTTTGTACTCGGCCATGT TCCCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2725800	C C	CTGGTTTT others(28): Show CTGGTTTTTGACCAAATGGTCTCTGTATTTTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	410	0.0024	35	c.-45 others(46): Show c.-4567_-4566insATTTTAAAATACAGAGACCATTTGGTCAAAAACC A	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		4429		chr19	TogoVar
DIS3L2_chr2_231956713_232342192	232000613	T T	TTTTCCTT others(28): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG01981.hp2 others(12): Show HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG06807.hp1 NA18941.hp2 NA18965.hp2 NA18992.hp2 NA19010.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 a0002c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0056 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0214 a0001c0001t0001g0297 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0051 a0001c0003t0007g0151 a0002c0004t0001g0202	15	31	0.4839	35	c.-93 others(54): Show c.-93-14207_-93-14173dupCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp1 NA19030.hp1 HG02630.hp1 HG03130.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0010 a0005c0007t0010 a0001c0001t0010 a0005c0007t0010	a0001c0001t0010g0032 a0005c0007t0010g0009 a0001c0001t0010g0032 a0005c0007t0010g0009	3	13	0.2308	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAAATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02622.hp2 HG02109.hp2 HG02280.hp2 HG02622.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0010 a0005c0007t0010 a0001c0001t0010 a0005c0007t0010	a0001c0001t0010g0033 a0001c0001t0010g0034 a0005c0007t0010g0035 a0001c0001t0010g0033 a0001c0001t0010g0034 a0005c0007t0010g0035	3	13	0.2308	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAAAAAAAAAATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18961.hp1 NA18943.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0002 a0001c0003t0004 a0002c0002t0002	a0001c0003t0004g0134 a0002c0002t0002g0198 a0001c0003t0004g0134 a0002c0002t0002g0198	2	12	0.1667	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02040.hp2 HG01175.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0257 a0002c0002t0002g0199 a0002c0002t0002g0257	2	12	0.1667	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAATATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18982.hp2 NA19072.hp1 NA18978.hp1 NA18982.hp2 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0218 a0002c0002t0002g0253 a0002c0002t0002g0259	3	13	0.2308	35	c.558 others(50): Show c.558+251_558+252insAAAAAAATATATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0328 a0002c0002t0002g0251 a0001c0001t0005g0328 a0002c0002t0002g0251	2	12	0.1667	35	c.558 others(50): Show c.558+251_558+252insAAAAATATATATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222936906	A A	AATATATT others(28): Show AATATATTATATATTATATAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19030.hp2 HG03516.hp2 NA19030.hp2	a0008 a0026 a0008 a0026	a0008c0017 a0026c0039 a0008c0017 a0026c0039	a0008c0017t0001 a0026c0039t0001 a0008c0017t0001 a0026c0039t0001	a0008c0017t0001g0215 a0026c0039t0001g0051 a0008c0017t0001g0215 a0026c0039t0001g0051	2	318	0.0063	35	c.-17 others(52): Show c.-17-5878_-17-5877insATAATATATATTATATATTATATATTAT ATAATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936906	A A	AATATATT others(28): Show AATATATTATATATTATATAATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02818.hp1 others(6): Show HG02257.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03453.hp2 HG03490.hp1 HG04184.hp1 HG06807.hp2 NA21309.hp2	a0001 a0003 a0016 others(1): Show a0001 a0003 a0016 a0023	a0001c0001 a0001c0037 a0003c0008 others(2): Show a0001c0001 a0001c0037 a0003c0008 a0016c0041 a0023c0040	a0001c0001t0001 a0001c0037t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0001c0037t0001 a0003c0008t0001 a0016c0041t0001 a0023c0040t0001	a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0340 a0001c0037t0001g0137 a0003c0008t0001g0102 a0003c0008t0001g0341 a0016c0041t0001g0062 a0023c0040t0001g0116	9	325	0.0277	35	c.-17 others(52): Show c.-17-5892_-17-5858dupTATATTATATAATATGTAATATATATTA TATATTA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936908	T T	TATATTAT others(28): Show TATATTATATATTATATAATATGTAATATATATTAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01168.hp1 others(23): Show HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG02071.hp1 HG02080.hp1 HG02257.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18969.hp2 NA18994.hp2 NA19007.hp1 NA19056.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008 a0004c0047 a0005c0013 a0006c0011	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0003c0008t0001 a0004c0047t0001 a0005c0013t0001 a0006c0011t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0140 others(23): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0224 a0001c0006t0001g0010 a0001c0006t0001g0012 a0001c0006t0001g0015 a0001c0006t0001g0028 a0001c0006t0001g0032 a0003c0008t0001g0026 a0003c0008t0001g0027 a0004c0047t0001g0124 a0005c0013t0001g0022 a0005c0013t0001g0035 a0005c0013t0001g0037 a0006c0011t0001g0117	26	343	0.0758	35	c.-17 others(52): Show c.-17-5865_-17-5864insCATATTATATATTATATAATATGTAATA TATATTA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936915	T T	TATATTAT others(28): Show TATATTATATAATATGTAATATATATTATATATTAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02148.hp2 HG02280.hp2 others(4): Show HG02109.hp1 HG02148.hp2 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG03453.hp1 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0016 a0001c0020 a0006c0011 a0001c0016 a0001c0020 a0006c0011	a0001c0016t0001 a0001c0020t0001 a0006c0011t0001 a0001c0016t0001 a0001c0020t0001 a0006c0011t0001	a0001c0016t0001g0118 a0001c0016t0001g0120 a0001c0016t0001g0121 others(4): Show a0001c0016t0001g0118 a0001c0016t0001g0120 a0001c0016t0001g0121 a0001c0016t0001g0172 a0001c0020t0001g0119 a0001c0020t0001g0123 a0006c0011t0001g0122	7	346	0.0202	35	c.-17 others(52): Show c.-17-5882_-17-5848dupAATATGTAATATATATTATATATTACAT ATTATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01243.hp1 others(1): Show HG00738.hp2 HG01109.hp1 HG01243.hp1 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0026 others(1): Show a0001c0002 a0001c0005 a0001c0026 a0002c0003	a0001c0002t0001 a0001c0005t0001 a0001c0026t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0001c0026t0001 a0002c0003t0001	a0001c0002t0001g0025 a0001c0005t0001g0049 a0001c0026t0001g0047 others(1): Show a0001c0002t0001g0025 a0001c0005t0001g0049 a0001c0026t0001g0047 a0002c0003t0001g0069	4	15	0.2667	35	c.510 others(54): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0147 a0001c0003t0147	a0001c0003t0147g0003 a0001c0003t0147g0003	1	146	0.0068	35	c.36 others(46): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAATATATATATATATAT A	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA21309.hp2 HG02148.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0005 a0002c0002t0002 a0005c0005t0005	a0002c0002t0002g0308 a0005c0005t0005g0206 a0002c0002t0002g0308 a0005c0005t0005g0206	2	82	0.0244	35	c.51 others(46): Show c.5150_*5151insAAAAAAAAAAAAAATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18974.hp2 HG00544.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0298 a0002c0002t0002g0236 a0002c0002t0002g0298	2	82	0.0244	35	c.51 others(46): Show c.5150_*5151insAAAAAAAAAAAATATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0190 a0008c0008t0003g0190	1	81	0.0123	35	c.51 others(46): Show c.5150_*5151insAAAAAAAAAATATATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	81	0.0123	35	c.51 others(46): Show c.5150_*5151insAATATATATATATATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0007 a0001c0011t0003g0007	1	26	0.0385	35	c.134 others(54): Show c.1349-4700_1349-4699insATATATATATATTTTTTTTTTTTTTT TTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0093 a0001c0011t0003g0093	1	26	0.0385	35	c.134 others(54): Show c.1349-4700_1349-4699insATATATATATATATATTTTTTTTTTT TTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197230959	T T	TACTATAT others(28): Show TACTATATGATTTATGCTAAATCATATACTATATGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp1 HG03098.hp1 others(4): Show HG01361.hp2 HG02257.hp1 HG03098.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0019 a0001c0003t0004 a0001c0003t0019	a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0004g0213 others(4): Show a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0004g0213 a0001c0003t0004g0214 a0001c0003t0004g0215 a0001c0003t0004g0216 a0001c0003t0019g0111	7	330	0.0212	35	c.319 others(54): Show c.319-36371_319-36370insTCATATAGTATATGATTTAGCATAAA TCATATAGT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	4/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197298788	T T	TTGGGGGG others(28): Show TTGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	329	0.0030	35	c.-28 others(44): Show c.-285_-284insCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		177		chr3	TogoVar
DLG2_chr11_83450173_85632344	84624857	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	3	0.3333	35	c.358 others(54): Show c.358-90127_358-90126insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7184646	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0315 a0001c0001t0140g0315	1	371	0.0027	35	c.60 others(46): Show c.6061_*6062insTATATATATATATATATATATATATATATATATA T	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2540		chr17	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(28): Show ATGTATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	26	0.0385	35	c.19- others(52): Show c.19-26246_19-26245insTGTATATATATATATATATATATATATA TACACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(28): Show ATGTATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	26	0.0385	35	c.19- others(52): Show c.19-26246_19-26245insTGTATATATATATATATATATATATATA TATACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014926	G G	GTATGACC others(28): Show GTATGACCAGGACAGACGGCGCCTCCACTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	35	c.73+ others(54): Show c.73+106960_73+106961insTATGACCAGGACAGACGGCGCCTCCA CTGTGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1017042	C C	CTGTGTGT others(28): Show CTGTGTGTATGACCAGGACAGACGGTGCCTCCACTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	38	0.0263	35	c.73+ others(54): Show c.73+109083_73+109084insATGACCAGGACAGACGGTGCCTCCAC TGTGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1110161	C C	CATAGGTC others(28): Show CATAGGTCTGTGACGTGCTGGGTCTGTGAGGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	35	c.74- others(54): Show c.74-148689_74-148688insTAGGTCTGTGACGTGCTGGGTCTGTG AGGTGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1374024	C C	CGTTTGCA others(28): Show CGTTTGCAGAGGGCTGTGTGGTGGAGGTTAGGTTAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	35	c.106 others(56): Show c.106+115151_106+115185dupGGGCTGTGTGGTGGAGGTTAGGTT AGGTTTGCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1374069	C C	CGGCTGTG others(28): Show CGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	39	0.0256	35	c.106 others(56): Show c.106+115215_106+115216insACAGAAGGCTGTGTGGTGGAGGTT AGGTTAGGTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32231949	T T	TACACACA others(28): Show TACACACAAATATAGTATGATTTGTGTGTGTTTGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0021 a0026 a0021 a0026	a0021c0060 a0026c0024 a0021c0060 a0026c0024	a0021c0060t0001 a0026c0024t0008 a0021c0060t0001 a0026c0024t0008	a0021c0060t0001g0113 a0026c0024t0008g0105 a0021c0060t0001g0113 a0026c0024t0008g0105	2	126	0.0159	35	c.629 others(56): Show c.6291-14921_6291-14887dupTGCAAACACACACAAATCATACTA TATTTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19062.hp1 NA18943.hp1 NA19062.hp1	a0003 a0004 a0003 a0004	a0003c0010 a0004c0004 a0003c0010 a0004c0004	a0003c0010t0001 a0004c0004t0002 a0003c0010t0001 a0004c0004t0002	a0003c0010t0001g0055 a0004c0004t0002g0083 a0003c0010t0001g0055 a0004c0004t0002g0083	2	29	0.0690	35	c.592 others(54): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32548184	C C	CATTCAGA others(28): Show CATTCAGAAATGAGTAAAATAGAAACTCCATATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	126	0.0079	35	c.199 others(54): Show c.1993-2885_1993-2851dupTAAATATGGAGTTTCTATTTTACTCA TTTCTGAAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(28): Show GTTTGCTTTGCTTTGCTTTGCTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18966.hp1 NA18974.hp1 HG00544.hp2 NA18966.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0013g0006 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0013g0006	3	4	0.7500	35	c.-94 others(52): Show c.-94-4834_-94-4800dupGCAAAGCAAAGCAAAGCAAAGCAAAGCA AAGCAAA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55167888	T T	TCAGGAGG others(28): Show TCAGGAGGCAGATCCGGCACTGGGAAGACTCCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	35	c.-13 others(46): Show c.-1371_-1370insGTAGGGAGTCTTCCCAGTGCCGGATCTGCCTCCT G	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1276		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55447794	G G	GAGAGGGG others(28): Show GAGAGGGGAGAGGGCAGAGGGGAGAGGGGAGAGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18977.hp2 NA18983.hp2 others(1): Show HG00408.hp2 NA18977.hp2 NA18983.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0241	4	336	0.0119	35	c.783 others(52): Show c.783+2393_783+2427dupGCCCTCTCCCCTCTCCCCTCTGCCCTCT CCCCTCT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(28): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18979.hp2 HG02027.hp2 NA18979.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0115 a0006c0027t0001g0145 a0006c0027t0001g0115 a0006c0027t0001g0145	2	32	0.0625	35	c.842 others(50): Show c.842-750_842-749insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(28): Show TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0149 a0149	a0149c0260 a0149c0260	a0149c0260t0015 a0149c0260t0015	a0149c0260t0015g0226 a0149c0260t0015g0226	1	47	0.0213	35	c.100 others(54): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(28): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0113 a0113	a0113c0058 a0113c0058	a0113c0058t0020 a0113c0058t0020	a0113c0058t0020g0002 a0113c0058t0020g0002	1	47	0.0213	35	c.100 others(54): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTCTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(28): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0168 a0168	a0168c0154 a0168c0154	a0168c0154t0003 a0168c0154t0003	a0168c0154t0003g0272 a0168c0154t0003g0272	1	47	0.0213	35	c.100 others(54): Show c.10026+493_10026+494insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(28): Show TTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0114 a0114	a0114c0138 a0114c0138	a0114c0138t0005 a0114c0138t0005	a0114c0138t0005g0011 a0114c0138t0005g0011	1	47	0.0213	35	c.100 others(54): Show c.10026+489_10026+490insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	82	0.0122	35	c.730 others(54): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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