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
CCDC126_chr7_23592382_23649708	23637451	CGGCCAGC others(91): Show CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19079.hp1 NA18944.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0158 a0001c0001t0001g0110 a0001c0001t0001g0158	2	378	0.0053	-98	c.239 others(115): Show c.239-5466_239-5369delATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCTGGCCAGCCGCCCC		CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC60_chr12_119329729_119546040	119360286	AGGGGGCT others(91): Show AGGGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCAGGCG GGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	254	0.0039	-98	c.90+ others(115): Show c.90+25052_90+25149delTGGGCGGCTGGCCAGGCGGGGGGCTGAC GCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGAC		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC73_chr11_32597721_32799662	32755796	TATGTGTA others(91): Show TATGTGTATATATATATCTCCATATATATGTGTGTGTATATATCTCCATA TATATGTGTGTGTATATATCTCCATATATATATCTGTGTATATATCTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0132 a0001c0003t0001g0129 a0001c0003t0001g0132	2	310	0.0065	-98	c.135 others(115): Show c.135+4215_135+4312delGGAGATATATACACAGATATATATATGG AGATATATACACACACATATATATGGAGATATATACACACACATATATAT GGAGATATATATATACACAT		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17						chr11	TogoVar
CDH7_chr18_65746012_65895337	65782022	CTTTCTCC others(91): Show CTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp1 NA18942.hp1 others(1): Show HG03831.hp2 HG04115.hp1 NA18942.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0002c0002t0042 a0002c0002t0097 others(1): Show a0001c0001t0002 a0002c0002t0042 a0002c0002t0097 a0002c0003t0014	a0001c0001t0002g0036 a0002c0002t0042g0021 a0002c0002t0097g0064 others(1): Show a0001c0001t0002g0036 a0002c0002t0042g0021 a0002c0002t0097g0064 a0002c0003t0014g0075	4	199	0.0201	-98	c.210 others(117): Show c.210+18972_210+19069delTTCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCTTTCTTT		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CDYL_chr6_4771404_4960544	4895332	TGTGCATA others(91): Show TGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTATGTATA TATGTGCATATATGCATGTATACATGTATACGTATATATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02451.hp1 others(14): Show HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03540.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0003 a0001c0002t0006 a0001c0003t0001 others(5): Show a0001c0001t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0010t0004	a0001c0001t0003g0118 a0001c0002t0006g0168 a0001c0003t0001g0035 others(14): Show a0001c0001t0003g0118 a0001c0002t0006g0168 a0001c0003t0001g0035 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0152 a0001c0003t0004g0020 a0001c0004t0001g0025 a0001c0004t0001g0117 a0001c0004t0001g0133 a0001c0004t0001g0135 a0001c0004t0002g0128 a0001c0004t0003g0034 a0001c0004t0003g0147 a0001c0010t0004g0123	17	247	0.0688	-98	c.691 others(115): Show c.691+2954_691+3051delGTGCATATATGCATGTATGTATATATGT GCATATATGCATGTATGTATATATGTGCATATATGCATGTATACATGTAT ACGTATATATGCATGTATAC		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6						chr6	TogoVar
CELF1_chr11_47460937_47558132	47541696	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAA GAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(28): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp2 HG03579.hp1 HG03942.hp2 HG04199.hp1 NA18942.hp2 NA18944.hp2 NA18964.hp1 NA18972.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0030 others(28): Show a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0003g0033 a0001c0001t0023g0221	31	338	0.0917	-98	c.-15 others(119): Show c.-154+11198_-154+11295delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14						chr11	TogoVar
CEL_chr9_133056981_133076861	133071304	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG02165.hp2 HG02602.hp1 others(4): Show HG00735.hp2 HG02165.hp2 HG02602.hp1 HG03209.hp1 NA18522.hp1 NA18998.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0002t0001g0024 a0002c0004t0001g0037	7	380	0.0184	-98	c.181 others(107): Show c.1810_1907delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTC CGGGGCCCCCCC	p.Val others(5): Show p.Val604fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1832/2381	1810/2262	604/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071337	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	389	0.0026	-98	c.184 others(107): Show c.1843_1940delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTC CGGGGCCCCCCC	p.Val others(5): Show p.Val615fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1865/2381	1843/2262	615/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071366	GGGGCCCC others(91): Show GGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCC GCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCC	G G	frameshift_variant frameshift_variant	HIGH	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	414	0.0024	-98	c.186 others(107): Show c.1868_1965delCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACG GGTGACTCCGGG	p.Ala others(5): Show p.Ala623fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1890/2381	1868/2262	623/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071403	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG02293.hp1 NA18987.hp1 NA19003.hp2 others(1): Show HG02293.hp1 NA18987.hp1 NA19003.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0002t0001g0015	4	399	0.0100	-98	c.190 others(107): Show c.1909_2006delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTC CGGCGCCCCCCC	p.Val others(5): Show p.Val637fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1931/2381	1909/2262	637/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071432	GGGGCCCC others(91): Show GGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCC GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCC	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00642.hp1 HG01175.hp2 others(2): Show HG00280.hp1 HG00642.hp1 HG01175.hp2 HG01361.hp1 HG01943.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0001c0001t0001 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0002t0001g0026 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0002t0001g0026 a0003c0006t0001g0002	5	414	0.0121	-98	c.194 others(107): Show c.1942_2039delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGC CGGGCCCCCCCC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071465	GGGGCCCC others(91): Show GGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCC GCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCC	G G	frameshift_variant frameshift_variant	HIGH	HG01433.hp2 HG01934.hp2 HG01433.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	414	0.0048	-98	c.196 others(107): Show c.1966_2063delGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCC CCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCAC GGGTGACTCCGG	p.Ala others(5): Show p.Ala656fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1988/2381	1966/2262	656/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071469	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCC ACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	403	0.0025	-98	c.197 others(107): Show c.1975_2072delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTG CCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTC CGGCGCCCCCCC	p.Val others(5): Show p.Val659fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1997/2381	1975/2262	659/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP44_chr4_174278911_174325328	174294961	ACGGCTGG others(91): Show ACGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGA CGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG01256.hp1 others(9): Show HG01099.hp1 HG01255.hp1 HG01256.hp1 HG02486.hp2 HG02615.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0023 a0002c0002t0025 a0002c0002t0005 a0002c0002t0023 a0002c0002t0025	a0002c0002t0005g0017 a0002c0002t0005g0162 a0002c0002t0005g0165 others(7): Show a0002c0002t0005g0017 a0002c0002t0005g0162 a0002c0002t0005g0165 a0002c0002t0005g0166 a0002c0002t0005g0167 a0002c0002t0005g0168 a0002c0002t0005g0169 a0002c0002t0005g0279 a0002c0002t0023g0171 a0002c0002t0025g0170	12	386	0.0311	-98	c.-14 others(117): Show c.-147-2992_-147-2895delTGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGG		CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(91): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA TACACACACGTATATACACGTATATACACACACGTATATACACGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	377	0.0027	-98	c.10 others(109): Show c.1041_*1138delACATACACGTATATACACGTATATACACATACAC GTATATACACGTATATACACACACGTATATACACGTATATACACACACGT ATATACACGTATAT		CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding					542		chr9	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(91): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02735.hp2 others(5): Show HG02109.hp2 HG02630.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp1 HG03579.hp2 NA19240.hp2	a0002 a0004 a0043 a0002 a0004 a0043	a0002c0003 a0004c0011 a0004c0081 others(1): Show a0002c0003 a0004c0011 a0004c0081 a0043c0094	a0002c0003t0001 a0002c0003t0002 a0004c0011t0001 others(2): Show a0002c0003t0001 a0002c0003t0002 a0004c0011t0001 a0004c0081t0001 a0043c0094t0001	a0002c0003t0001g0175 a0002c0003t0002g0172 a0004c0011t0001g0117 others(5): Show a0002c0003t0001g0175 a0002c0003t0002g0172 a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120 a0004c0081t0001g0123 a0043c0094t0001g0143	8	162	0.0494	-98	c.556 others(115): Show c.5563+765_5563+862delCTATATATATATATATATCTATATATAT CTATATATATATATCTATATATATATATATCTATATATATCTATATCTAT ATCTATATATATATATATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CHRFAM7A_chr15_30355566_30398540	30375778	AGTGTTGA others(91): Show AGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTG AGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00738.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG00738.hp1 HG00738.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG02572.hp1 HG02698.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1	a0002 a0003 a0002 a0003	a0002c0010 a0003c0003 a0003c0019 others(1): Show a0002c0010 a0003c0003 a0003c0019 a0003c0021	a0002c0010t0021 a0003c0003t0002 a0003c0003t0019 others(4): Show a0002c0010t0021 a0003c0003t0002 a0003c0003t0019 a0003c0003t0022 a0003c0003t0024 a0003c0019t0002 a0003c0021t0002	a0002c0010t0021g0017 a0003c0003t0002g0007 a0003c0003t0002g0009 others(10): Show a0002c0010t0021g0017 a0003c0003t0002g0007 a0003c0003t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0013 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0019g0005 a0003c0003t0022g0008 a0003c0003t0024g0019 a0003c0019t0002g0012 a0003c0021t0002g0014	13	131	0.0992	-98	c.160 others(115): Show c.160+1154_160+1251delACACACCACTCACACAACCACTCACATA CCACCCACACGACTCAACACTCACACACCACTCACACAACCACTCACATA CCACCCACACGACTCAACAC		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9						chr15	TogoVar
CLDN4_chr7_73825996_73837690	73836179	AGGGGGGT others(91): Show AGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	368	0.0027	-98	c.43 others(109): Show c.4349_*4446delGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCAGGAGGGAGGTG		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					3490		chr7	TogoVar
CLEC3A_chr16_78017548_78037101	78034408	AACCTTAC others(91): Show AACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCAGTGCTTCTCCCCAA ACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCAGTGCTTCTCCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01516.hp1 others(6): Show HG00140.hp2 HG00642.hp2 HG01516.hp1 HG01517.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0010g0032	9	446	0.0202	-98	c.35 others(109): Show c.3568_*3665delACCTTACCAGGAAGCTGATTCTAATCTTCAGAGC AGTGCTTCTCCCCAAACCTTACCAGGAAGCTGATTCTAATCTTCAGAGCA GTGCTTCTCCCCAG		CLEC3A	ENSG00000166509.12	transcript	ENST00000299642.10	protein_coding					2308		chr16	TogoVar
CLN8_chr8_1758789_1791570	1763524	CCCCCCGC others(91): Show CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG03139.hp1 HG02818.hp1 HG02970.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0056 a0003c0003t0023 a0003c0003t0056	a0003c0003t0023g0047 a0003c0003t0056g0117 a0003c0003t0023g0047 a0003c0003t0056g0117	3	411	0.0073	-98	c.-48 others(107): Show c.-484_-387delCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCC CCCCGCGCCGCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					264		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763547	GCCGCGCC others(91): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA18971.hp2 NA19030.hp2 HG03130.hp1 NA18971.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0011 a0001c0001t0011g0007 a0001c0001t0001g0011 a0001c0001t0011g0007	3	409	0.0073	-98	c.-46 others(107): Show c.-461_-364delCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCC GCCGCGCCCCTC		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					241		chr8	TogoVar
CLPX_chr15_65143219_65190342	65146008	AATATATA others(91): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02683.hp1 HG03239.hp2 others(1): Show HG02523.hp2 HG02683.hp1 HG03239.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0004g0023	4	97	0.0412	-98	c.47 others(109): Show c.4717_*4814delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATAT		CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding					2210		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140490008	GTACATGT others(91): Show GTACATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	102	0.0098	-98	c.134 others(119): Show c.1344+23280_1344+23377delCATGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTATATATATATATATATATA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNIH4_chr1_224351879_224384452	224378516	ACTGAGGC others(91): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0107 a0001c0001t0036g0107	1	16	0.0625	-98	c.29 others(109): Show c.2996_*3093delCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGC		CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5				2996	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT6_chr5_180489379_180583358	180534806	CCTGGGGT others(91): Show CCTGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCC CTGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 NA20805.hp1 HG00099.hp1 HG00738.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0005 a0001c0001t0018g0006 a0001c0001t0018g0008 a0001c0001t0018g0005 a0001c0001t0018g0006 a0001c0001t0018g0008	3	332	0.0090	-98	c.112 others(115): Show c.112+5516_112+5613delGCTGGGGTCCGAGAGGCCCTCGGAATCC ACCATGGCATGGGCCGGAGTCCCTGGGGTCCGAGAGGCCCTCGGAATCCA CCATGGCATGGGCCGGAGTC		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTNAP2_chr7_146111801_148425998	147084328	CTATATAT others(91): Show CTATATATGTATATATAATATATGCATAATGCTATATATGTATATATAAT ATATGCATAATGCTATATATGTATATATAATACATATATGCATAATGCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0020 a0001c0015t0001 a0001c0003t0020 a0001c0015t0001	a0001c0003t0020g0017 a0001c0015t0001g0011 a0001c0003t0020g0017 a0001c0015t0001g0011	2	39	0.0513	-98	c.551 others(117): Show c.551-23818_551-23721delTATATATGTATATATAATATATGCAT AATGCTATATATGTATATATAATATATGCATAATGCTATATATGTATATA TAATACATATATGCATAATGCT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23						chr7	TogoVar
COL4A2_chr13_110302284_110518209	110355661	GTAGCTCA others(91): Show GTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA GTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(54): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02129.hp2 HG02155.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG03491.hp2 HG03831.hp2 HG04199.hp1 NA18943.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA19001.hp1 NA19002.hp2 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0014 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0015 a0001c0047 a0001c0079 a0002c0006 a0002c0017 a0002c0035 a0002c0062 a0003c0018 a0004c0012 a0006c0033 a0014c0108 a0022c0099 a0023c0048 a0024c0076	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0005t0002 a0001c0008t0001 a0001c0008t0003 a0001c0008t0004 a0001c0008t0011 a0001c0011t0003 a0001c0011t0013 a0001c0015t0001 a0001c0015t0002 a0001c0047t0002 a0001c0079t0005 a0002c0006t0003 a0002c0006t0004 a0002c0017t0002 a0002c0017t0003 a0002c0035t0003 a0002c0062t0047 a0003c0018t0006 a0004c0012t0004 a0006c0033t0012 a0014c0108t0002 a0022c0099t0006 a0023c0048t0005 a0024c0076t0003	a0001c0001t0001g0232 a0001c0001t0003g0064 a0001c0001t0004g0348 others(54): Show a0001c0001t0001g0232 a0001c0001t0003g0064 a0001c0001t0004g0348 a0001c0001t0006g0083 a0001c0001t0046g0283 a0001c0002t0001g0152 a0001c0002t0002g0286 a0001c0002t0002g0319 a0001c0002t0003g0051 a0001c0002t0003g0127 a0001c0002t0003g0136 a0001c0002t0004g0292 a0001c0002t0005g0100 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0008g0012 a0001c0003t0002g0267 a0001c0003t0002g0293 a0001c0003t0002g0330 a0001c0003t0002g0340 a0001c0003t0003g0049 a0001c0003t0003g0065 a0001c0003t0003g0089 a0001c0003t0017g0245 a0001c0004t0001g0099 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0004g0278 a0001c0004t0004g0331 a0001c0005t0002g0297 a0001c0005t0002g0338 a0001c0008t0001g0222 a0001c0008t0003g0081 a0001c0008t0004g0282 a0001c0008t0011g0011 a0001c0011t0003g0125 a0001c0011t0013g0106 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0015t0001g0227 a0001c0015t0002g0343 a0001c0047t0002g0311 a0001c0079t0005g0361 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0017t0002g0301 a0002c0017t0003g0126 a0002c0035t0003g0142 a0002c0062t0047g0299 a0003c0018t0006g0145 a0004c0012t0004g0300 a0006c0033t0012g0337 a0014c0108t0002g0323 a0022c0099t0006g0059 a0023c0048t0005g0206 a0024c0076t0003g0076	57	215	0.2651	-98	c.100 others(115): Show c.100-1728_100-1631delTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTG CACTAGCTCACCTGTGTGTG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	46006015	GCCCGGGG others(91): Show GCCCGGGGCAGAGGCAGCGGGTGGTGGCCGGGGCCCGGGGCAGACGCAGT GAGGCGGTGGGCGGGGCCCGGGGTAGTCGCAGTAGGTGGTGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0040 a0004c0005t0001g0040	1	98	0.0102	-98	c.20 others(109): Show c.2003_*2100delCCCGGGGCAGAGGCAGCGGGTGGTGGCCGGGGCC CGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGTAGTCGCAGTAG GTGGTGGGCGGGGC		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					968		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006190	CGCAGTGA others(91): Show CGCAGTGAGGCGGTGGGCGGGGCCCGGGTCAGAGGCAACGGGTGGTGGGC GGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02451.hp1 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0048 a0001c0009t0002g0086 a0001c0009t0002g0048 a0001c0009t0002g0086	2	126	0.0159	-98	c.21 others(109): Show c.2178_*2275delGCAGTGAGGCGGTGGGCGGGGCCCGGGTCAGAGG CAACGGGTGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGG GGCCCGGGGCAGAT		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					1143		chr21	TogoVar
CPNE4_chr3_131528569_132040014	131952457	GTCCGGGA others(91): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCGCCCCGCCAGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCTCCCGCCCGGCCAGCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 HG01884.hp2 others(10): Show HG01069.hp2 HG01169.hp2 HG01884.hp2 HG02559.hp1 HG02602.hp1 HG02735.hp1 HG02895.hp1 HG03239.hp1 HG03239.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0038 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0002t0002g0082 a0001c0003t0001g0005 a0001c0005t0001g0032	13	91	0.1429	-98	c.-1- others(115): Show c.-1-47111_-1-47014delTGGGGTGGCTGGCCGGGCGGGAGGCTGA CGCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGCGCTGAC CCCCCCACCTCCCTCCCGGA		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
CPSF2_chr14_92116969_92177145	92173323	ATATATAT others(91): Show ATATATATACGTATATATATATGTATATATATATACGTATATATATATGT ATATATATACGTATATATATATATACACATATGTATATATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA18946.hp1 NA19030.hp1 others(2): Show HG02165.hp1 NA18946.hp1 NA19030.hp1 NA19074.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0068 others(2): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0068 a0001c0001t0069 a0001c0001t0085	a0001c0001t0003g0053 a0001c0001t0021g0004 a0001c0001t0068g0116 others(2): Show a0001c0001t0003g0053 a0001c0001t0021g0004 a0001c0001t0068g0116 a0001c0001t0069g0115 a0001c0001t0085g0149	5	386	0.0130	-98	c.11 others(111): Show c.11580_*11677delTATATATACGTATATATATATGTATATATATA TACGTATATATATATGTATATATATACGTATATATATATATACACATATG TATATATATATATGTG		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1179		chr14	TogoVar
CSMD1_chr8_2930361_4999914	4486132	TATATACA others(91): Show TATATACATACATATATATATATATACATACATATATATATATACATACA TATATATATATATATATACATACATATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp2 HG03130.hp1 HG03579.hp2	a0001 a0032 a0001 a0032	a0001c0026 a0032c0024 a0001c0026 a0032c0024	a0001c0026t0007 a0032c0024t0077 a0001c0026t0007 a0032c0024t0077	a0001c0026t0007g0093 a0032c0024t0077g0104 a0001c0026t0007g0093 a0032c0024t0077g0104	2	126	0.0159	-98	c.303 others(117): Show c.303-66165_303-66068delGTATGTATATATATATATATATATAT GTATGTATATATATATATATATATGTATGTATATATATATATGTATGTAT ATATATATATATGTATGTATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
DCBLD2_chr3_98790941_98906695	98836799	CGGGGTGG others(91): Show CGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0125 a0001c0002t0005g0125	1	325	0.0031	-98	c.572 others(117): Show c.572-11531_572-11434delCTCCGGGAGGGAGGTGGGGGTGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCTGCCCGGCCAGCCACCCC		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837062	TCTCCCTC others(91): Show TCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCAC CTCCCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18995.hp1 HG00609.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0223 a0001c0001t0001g0224	2	328	0.0061	-98	c.572 others(117): Show c.572-11794_572-11697delGTGGGGGGGTCGGCCCCCTGCCCGGC CAGCCACCCCGTCTGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAG		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DEFB124_chr20_31460471_31480127	31471278	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	360	0.0028	-98	c.58+ others(113): Show c.58+1580_58+1677delGAGGTGGGGGGGTCAGCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGG		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEPDC1B_chr5_60591912_60705166	60667991	TTATATAT others(91): Show TTATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTAT ATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01516.hp2 others(21): Show HG00642.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0147 a0001c0001t0001g0148 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0003t0001g0157 a0001c0003t0001g0158	24	198	0.1212	-98	c.314 others(117): Show c.314+18873_314+18970delTATAAAATATCCATTTTATATATATA TAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DIP2C_chr10_269201_694668	322584	CTGTTAGA others(91): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	-98	c.392 others(117): Show c.3924+4324_3924+4421delACACTGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCA CCCCCGACGGACTGTTCTAACA		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322618	GGCGAGAG others(91): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	59	0.0169	-98	c.392 others(117): Show c.3924+4290_3924+4387delTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323104	CTCCGGCG others(91): Show CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0014 a0001c0009t0001g0013 a0001c0001t0001g0014 a0001c0009t0001g0013	2	81	0.0247	-98	c.392 others(117): Show c.3924+3804_3924+3901delCCCCCGCACCCCCGACTGACTGTTCT AACAACACTGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCGCCGGA		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323157	AGTGAGAG others(91): Show AGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCG GCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	63	0.0159	-98	c.392 others(117): Show c.3924+3751_3924+3848delCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACGCCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGT TCTAACAACACTGGTCTCTCAC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323159	TGAGAGAC others(91): Show TGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGC GAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	57	0.0175	-98	c.392 others(117): Show c.3924+3749_3924+3846delGCCGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACT GTTCTAACAACACTGGTCTCTC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	454512	GCATCAGC others(91): Show GCATCAGCACCTATCAAACCCCTCAGAGAAAGAGGTAGTATACAAATGCA CCATCTATGCTTGATGTCATTATTGCAATGAGATATTCGGGGATAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(18): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0015 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(11): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0015t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(18): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 a0001c0002t0001g0080 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0084 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0005 a0001c0005t0002g0006 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0015t0002g0082 a0001c0018t0003g0007 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	21	88	0.2386	-98	c.269 others(117): Show c.269-13614_269-13517delTTTTTATCCCCGAATATCTCATTGCA ATAATGACATCAAGCATAGATGGTGCATTTGTATACTACCTCTTTCTCTG AGGGGTTTGATAGGTGCTGATG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36						chr10	TogoVar
DLC1_chr8_13078361_13519851	13453393	TATATATA others(91): Show TATATATATGTGTATATATATATATATATATGTGTATATATATATGTATA TATATACATATATATATGTATATATATACATATATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0035 a0002c0006t0035	a0002c0006t0035g0016 a0002c0006t0035g0016	1	204	0.0049	-98	c.102 others(119): Show c.1023+45558_1023+45655delGTATATATATACATATATATGTAT ATATATACATATATATATGTATATATATACATATATATATACACATATAT ATATATATATATACACATATATAT		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(91): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	4	0.2500	-98	c.519 others(117): Show c.519+32270_519+32367delAAGAAAGAAAGAAAGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAG		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27						chr11	TogoVar
DLGAP2_chr8_732628_1713476	1015387	AGACGACG others(91): Show AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	37	0.0270	-98	c.73+ others(117): Show c.73+107426_73+107523delACGCCTCCACTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGACG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1246899	CAGCAAGA others(91): Show CAGCAAGACCTTTGAGATCAGTGTGGGAGTGATGGTCCATGTCGGTGGCC AGGAACACCTTTGAGATTAGTGTGGAAGTGATGGTCCATGTTGGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0027 a0003c0005t0002 a0001c0002t0027 a0003c0005t0002	a0001c0002t0027g0023 a0003c0005t0002g0030 a0001c0002t0027g0023 a0003c0005t0002g0030	2	38	0.0526	-98	c.74- others(115): Show c.74-11951_74-11854delAGCAAGACCTTTGAGATCAGTGTGGGAG TGATGGTCCATGTCGGTGGCCAGGAACACCTTTGAGATTAGTGTGGAAGT GATGGTCCATGTTGGTGGCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1346675	CATACAGA others(91): Show CATACAGAGCTGCTTTAAACTCATGGTAGCTGTGTGGAGGTTGAGTTCTC ATACAGAGCTGAATTGCACTCACGGTAGCTGTGTGGAGGTTGAGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 NA20300.hp1 HG00639.hp1 HG01361.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0023 a0001c0003t0013 a0001c0002t0001 a0001c0002t0023 a0001c0003t0013	a0001c0002t0001g0019 a0001c0002t0023g0005 a0001c0003t0013g0007 a0001c0002t0001g0019 a0001c0002t0023g0005 a0001c0003t0013g0007	3	40	0.0750	-98	c.106 others(117): Show c.106+87800_106+87897delGCTGCTTTAAACTCATGGTAGCTGTG TGGAGGTTGAGTTCTCATACAGAGCTGAATTGCACTCACGGTAGCTGTGT GGAGGTTGAGTTCCTATACAGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC22_chr12_49341888_49358690	49354569	GATTTCTT others(91): Show GATTTCTTCTGAAAAACGTTTTAATGGTTTAGACTTTCACCAAGTGCAAG AAACTGGCATTTTCTTTGTAACTGGCCTGGAATGTTACCACTCTTTTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-98	c.30 others(109): Show c.3068_*3165delATTTCTTCTGAAAAACGTTTTAATGGTTTAGACT TTCACCAAGTGCAAGAAACTGGCATTTTCTTTGTAACTGGCCTGGAATGT TACCACTCTTTTAA		DNAJC22	ENSG00000178401.16	transcript	ENST00000549441.7	protein_coding					880		chr12	TogoVar
DOCK11_chrX_118490815_118691147	118647951	AATAATAT others(91): Show AATAATATATAATATATAATTATATATAATATATAATAATATATAATATA TTATTATAATATATAATATAAATTATAATATTATATAATAATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20805.hp1 HG00099.hp2 NA20805.hp1	a0002 a0002	a0002c0007 a0002c0019 a0002c0007 a0002c0019	a0002c0007t0001 a0002c0019t0001 a0002c0007t0001 a0002c0019t0001	a0002c0007t0001g0042 a0002c0019t0001g0123 a0002c0007t0001g0042 a0002c0019t0001g0123	2	202	0.0099	-98	c.439 others(115): Show c.4399-978_4399-881delTAATTATATATAATATATAATAATATAT AATATATTATTATAATATATAATATAAATTATAATATTATATAATAATAT AATATATAATATATAATATA		DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK8_chr9_209865_470255	403882	CTCTCTCT others(91): Show CTCTCTCTCTCTATATATATATATATATATATATACATATATATATATGT GTATATATATATGTGTATATATATATATGTATATATATATATATGTGTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0117 a0008c0117	a0008c0117t0001 a0008c0117t0001	a0008c0117t0001g0016 a0008c0117t0001g0016	1	253	0.0040	-98	c.323 others(116): Show c.3235-1034_3235-937delCTCTCTCTCTATATATATATATATATA TATATACATATATATATATGTGTATATATATATGTGTATATATATATATG TATATATATATATATGTGTAT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar

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