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
CACNA1H_chr16_1148106_1226768	1191350	TGACCCAG others(97): Show TGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTT CGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCAGGG TTTTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0058	a0002c0008 a0002c0012 a0003c0015 others(3): Show a0002c0008 a0002c0012 a0003c0015 a0005c0023 a0005c0059 a0058c0048	a0002c0008t0018 a0002c0012t0001 a0002c0012t0002 others(4): Show a0002c0008t0018 a0002c0012t0001 a0002c0012t0002 a0003c0015t0011 a0005c0023t0003 a0005c0059t0003 a0058c0048t0016	a0002c0008t0018g0030 a0002c0012t0001g0318 a0002c0012t0002g0049 others(5): Show a0002c0008t0018g0030 a0002c0012t0001g0318 a0002c0012t0002g0049 a0002c0012t0002g0333 a0003c0015t0011g0014 a0005c0023t0003g0196 a0005c0059t0003g0023 a0058c0048t0016g0031	8	336	0.0238	-104	c.300 others(17): Show c.300-3620_300-3517del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG8_chr19_53957937_53995215	53962489	GGGGTTAG others(97): Show GGGGTTAGTGGGATGGTGGGACGACTTTCTTGGGCAGAAGACAGGAGTGG AGAGAGATTTCATCTTATTTATTAATTATTAGCGGTGGTGGGGACTCCTC CGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0043 a0001c0001t0019g0043	1	392	0.0026	-104	c.-65 others(9): Show c.-653_-550del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		447		chr19	TogoVar
CAMSAP2_chr1_200733893_200865704	200816808	ATATATGT others(97): Show ATATATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	338	0.0030	-104	c.645 others(17): Show c.645+1166_645+1269del	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	ATATGTGT others(97): Show ATATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00735.hp2 others(17): Show HG00099.hp1 HG00280.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01433.hp1 HG02109.hp1 HG02258.hp1 HG03195.hp1 HG03540.hp2 HG03654.hp2 NA18906.hp1 NA18964.hp1 NA18983.hp1 NA19076.hp1 NA19085.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0004 a0001c0001t0004 a0002c0003t0004	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 others(16): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0357 a0002c0003t0004g0001 a0002c0003t0004g0009 a0002c0003t0004g0010	20	253	0.0791	-104	c.645 others(17): Show c.645+1226_645+1329del	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC73_chr11_32597721_32799662	32755903	CTATATAT others(97): Show CTATATATATCTCCATATATATATCTATATATATATCTCCATATATATAT CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19240.hp2 HG00735.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0168 a0001c0003t0001g0169	2	282	0.0071	-104	c.135 others(17): Show c.135+4102_135+4205del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCR3_chr3_46237460_46271706	46253894	TATAGAAA others(97): Show TATAGAAAGATTTCCAAGATGTAAGGTTTAAAAAGGCTCAGAAAACTTGA TGTTTCTTACTCTGATTTATGTACCAAAGAATGAGACAGTTCTACAAGTA TTGAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	406	0.0025	-104	c.-11 others(19): Show c.-11-11235_-11-11132del	CCR3	ENSG00000183625.16	transcript	ENST00000395940.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDAN1_chr15_42718544_42742128	42739521	TCAGAAGG others(97): Show TCAGAAGGTAGACCAGGAACTATGTATCAAGGAGAAGTAAGTGAGGCTCA AGCCCAGGCCACCTAGGCTGTGTTTATTCAGTCCACCCAATCCAATGTCA AAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	-104	c.-25 others(11): Show c.-2523_-2420del	CDAN1	ENSG00000140326.13	transcript	ENST00000356231.4	protein_coding		2394		chr15	TogoVar
CDC73_chr1_193117031_193259815	193161730	ATATATAA others(97): Show ATATATAATATATATCATATTATATTGTATATAATATATATCATATTATA TTGTATATAATATATATCATATTATATTGTATATAATATATATCATATTA TATTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02922.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0031 a0001c0001t0002g0143 a0001c0001t0014g0137 a0001c0001t0001g0031 a0001c0001t0002g0143 a0001c0001t0014g0137	3	218	0.0138	-104	c.972 others(17): Show c.972+9566_972+9669del	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH2_chr18_27945966_28182130	27947899	AGTGTTTG others(97): Show AGTGTTTGGAAAACAGATATAAGTGATATAACTTTGATATAAGTGTGTAT ACGGTAAAGAATGCATTCCACATGGTTGGGTTTATATTGAAGTTTTTAAC AAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(43): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG01099.hp1 HG01175.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02486.hp1 HG02698.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18941.hp2 NA18947.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18999.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19072.hp1 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 a0002c0003t0009 a0002c0003t0010 a0004c0005t0008	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 others(43): Show a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0004g0012 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0001t0010g0260 a0001c0001t0024g0051 a0001c0001t0025g0065 a0001c0001t0026g0239 a0001c0002t0001g0144 a0001c0002t0002g0122 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0004g0036 a0002c0003t0001g0091 a0002c0003t0009g0253 a0002c0003t0010g0238 a0002c0003t0010g0243 a0002c0003t0010g0259 a0004c0005t0008g0072	46	266	0.1729	-104	c.41 others(11): Show c.4150_*4253del	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding		3066		chr18	TogoVar
CDH2_chr18_27945966_28182130	27947985	TTGAAGTT others(97): Show TTGAAGTTTTTAACAAGCGGTGTTTGGAAAACAGATATAAGTGATATAAC TTTGATATAAGTGTGTATACGGTAAAGAATGCATTCCACATGGTTGGGTT TATAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	253	0.0040	-104	c.40 others(11): Show c.4065_*4168del	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding		2981		chr18	TogoVar
CDH4_chr20_61247261_61945617	61675289	ATGGAAAC others(97): Show ATGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTG CCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCAC TCCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG03209.hp1 others(1): Show HG02559.hp2 HG02723.hp1 HG03209.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0004	a0001c0001t0044 a0001c0006t0006 a0001c0007t0047 others(1): Show a0001c0001t0044 a0001c0006t0006 a0001c0007t0047 a0002c0004t0001	a0001c0001t0044g0085 a0001c0006t0006g0036 a0001c0007t0047g0065 others(1): Show a0001c0001t0044g0085 a0001c0006t0006g0036 a0001c0007t0047g0065 a0002c0004t0001g0010	4	82	0.0488	-104	c.170 others(19): Show c.170-68225_170-68122del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782028	CCCTTCCT others(97): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp2 NA21309.hp2 HG02145.hp1 HG02976.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0002c0005 a0001c0008 a0002c0002 a0002c0005	a0001c0008t0008 a0002c0002t0073 a0002c0005t0067 a0001c0008t0008 a0002c0002t0073 a0002c0005t0067	a0001c0008t0008g0117 a0002c0002t0073g0103 a0002c0005t0067g0115 a0001c0008t0008g0117 a0002c0002t0073g0103 a0002c0005t0067g0115	3	124	0.0242	-104	c.210 others(19): Show c.210+18977_210+19080del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11			chr18	TogoVar
CDYL_chr6_4771404_4960544	4895326	TATATATG others(97): Show TATATATGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTA TGTATATATGTGCATATATGCATGTATACATGTATACGTATATATGCATG TATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03041.hp2 NA18948.hp2 others(1): Show HG00408.hp2 HG03041.hp2 NA18948.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0181 a0001c0012t0001g0134	4	248	0.0161	-104	c.691 others(17): Show c.691+2950_691+3053del	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP72_chr5_607340_658553	650139	TGACTGTG others(97): Show TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GCGTG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA19010.hp1 NA20129.hp1 HG01256.hp2 NA19010.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0029 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0029	3	84	0.0357	-104	c.177 others(19): Show c.1778+2234_1778+2337del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650166	TGACTGAG others(97): Show TGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20129.hp2 HG02451.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0017 a0003c0005t0002g0022 a0003c0005t0002g0017 a0003c0005t0002g0022	2	90	0.0222	-104	c.177 others(19): Show c.1778+2256_1778+2359del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP299_chr4_80330730_80968750	80799617	TATTTATA others(97): Show TATTTATAAATATATAATATATAAAATATATATTTTATATATTATATTTT ATAAATATATATTTATAAATATATAATATATAAAATATATATTTTATATA TTATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0047 a0002c0007t0001g0047	1	96	0.0104	-104	c.334 others(19): Show c.334-70375_334-70272del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP410_chr21_44323944_44344390	44336055	GTGAATGC others(97): Show GTGAATGCCCAGGGCCTGAGGGGAGCGGCCCTGCTCAGCCAGTGTGCCCA GGGTGAATGCCCAGGGCCTGAGGGGAGCGGCCCTGCTCAGCCAGTGTGCC CAGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0260 a0001c0002t0007g0260	1	434	0.0023	-104	c.97- others(13): Show c.97-355_97-252del	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	2/6			chr21	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(97): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0150 a0002c0007t0001g0150	1	155	0.0065	-104	c.556 others(17): Show c.5563+765_5563+868del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP99_chr4_2413955_2468002	2466229	TCCTCTTG others(97): Show TCCTCTTGCCTCATCCTCCCTACTAGCTGGGACTGCATGCACTTACCACC ATACCCAGCTAATTTTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTG CCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	348	0.0029	-104	c.33 others(11): Show c.3304_*3407del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3228		chr4	TogoVar
CHRM3_chr1_239381568_239920450	239732456	CTTAGATA others(97): Show CTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAATATCT CACTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAATAT CTCAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03130.hp2 others(3): Show HG01256.hp2 HG01258.hp1 HG03130.hp2 HG03139.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 a0001c0001t0054 a0001c0001t0060	a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0006g0003 others(3): Show a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0006g0003 a0001c0001t0029g0089 a0001c0001t0054g0113 a0001c0001t0060g0027	6	114	0.0526	-104	c.-14 others(21): Show c.-147+54272_-147+54375del	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHST8_chr19_33616953_33778506	33757438	GAAAGAAA others(97): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG02486.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0210 a0001c0002t0001g0203 a0001c0002t0001g0210	2	243	0.0082	-104	c.131 others(19): Show c.131-13973_131-13870del	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757442	GAAAGAAA others(97): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0028	1	239	0.0042	-104	c.131 others(19): Show c.131-13969_131-13866del	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575561	CGTGTATA others(97): Show CGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACTCA TATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATATA TACGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0300 a0001c0003t0003g0300	1	348	0.0029	-104	c.894 others(15): Show c.894+606_894+709del	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLN8_chr8_1758789_1791570	1763540	GCCCCCCG others(97): Show GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC CGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCG CCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG01169.hp2 others(7): Show HG00099.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG02300.hp1 HG02738.hp2 NA18956.hp1 NA18983.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0030 a0001c0001t0058	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0007g0010 a0001c0001t0030g0086 a0001c0001t0058g0003	10	411	0.0243	-104	c.-46 others(9): Show c.-468_-365del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		248		chr8	TogoVar
CNN2_chr19_1021608_1044065	1033934	CACGGTGT others(97): Show CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	388	0.0026	-104	c.390 others(17): Show c.390+1257_390+1360del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034448	GAGCGTGG others(97): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	382	0.0026	-104	c.391 others(17): Show c.391-1667_391-1564del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034732	GTGGGTGG others(97): Show GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG02615.hp2 others(15): Show HG00408.hp2 HG00544.hp1 HG02615.hp2 HG02723.hp1 HG03710.hp2 HG04115.hp1 NA18747.hp2 NA18945.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA19007.hp1 NA19054.hp2 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0005t0016	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0197 others(13): Show a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0116 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0005g0005 a0001c0001t0005g0068 a0001c0001t0006g0044 a0001c0005t0016g0045	18	388	0.0464	-104	c.391 others(17): Show c.391-1387_391-1284del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034812	CGGTGTCT others(97): Show CGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTA GACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0216 a0001c0001t0005g0216	1	388	0.0026	-104	c.391 others(17): Show c.391-1317_391-1214del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CNN2_chr19_1021608_1044065	1035058	CGGTGTCT others(97): Show CGGTGTCTGGTGTATACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	387	0.0026	-104	c.391 others(16): Show c.391-1071_391-968del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
COL18A1_chr21_45400165_45518720	45437548	ACACACAC others(97): Show ACACACACACACACAGACACAGGCACTCTCCTGTACACACACACACTCAC ACACTCAGACACACAGGCACTCTCCTGCACACACACTCACACAGGCACTC TCCTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0036 a0001c0095 a0001c0036 a0001c0095	a0001c0036t0004 a0001c0095t0001 a0001c0036t0004 a0001c0095t0001	a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0095t0001g0006 a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0095t0001g0006	3	288	0.0104	-104	c.107 others(19): Show c.107-30680_107-30577del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COQ8A_chr1_226935294_226992544	226976168	CTGGCTGC others(97): Show CTGGCTGCGGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCT GGCTGCGGGGCTGTGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGG CTGCG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02083.hp1 HG01934.hp2 HG02083.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0009 a0002c0009t0009	a0002c0009t0009g0046 a0002c0009t0009g0046	2	410	0.0049	-104	c.656 others(17): Show c.656-1280_656-1177del	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14			chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666996	AAAGAAAG others(97): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0165 a0001c0001t0017g0165	1	220	0.0045	-104	c.-39 others(21): Show c.-391-65235_-391-65132del	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CTNND2_chr5_10966836_11909446	11816886	AGAGAGAG others(97): Show AGAGAGAGAGGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGAG GAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGAGGAGAGAGAGAGAGG AGGAG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	24	0.0417	-104	c.38- others(17): Show c.38-84718_38-84615del	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CYTH1_chr17_78669048_78787273	78760453	ATACATAC others(97): Show ATACATACATATATATATGTATATATATGTATGTATATATATATACATAT ATATGTATATATATGTATATATATATATACATACATATATATGTATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	375	0.0027	-104	c.22+ others(17): Show c.22+21645_22+21748del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAAM2_chr6_39787376_39909869	39841263	TCCGGGGG others(97): Show TCCGGGGGGAGGGGTTCCAGGGTAGAGGGAACTCCTTGGGGAAGGGTTGG GGAGGGGCTTCTAGGGCGAGGGTTCCAGGGGGAGAGGCTCCAGGGGGAGG GAGTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp2 HG03041.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0003 a0001c0006t0001 a0001c0003t0003 a0001c0006t0001	a0001c0003t0003g0117 a0001c0006t0001g0153 a0001c0003t0003g0117 a0001c0006t0001g0153	2	298	0.0067	-104	c.-56 others(19): Show c.-56-14981_-56-14878del	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DACT2_chr6_168301904_168324777	168316266	ATGTGTGT others(97): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACC TCCCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	461	0.0022	-104	c.246 others(17): Show c.246+3018_246+3121del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DCST2_chr1_155013527_155038781	155027283	CCGCCTGC others(97): Show CCGCCTGCCTTAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCG AGTAAGACCCCCAGAAACATTTATTGGCTGAGCACTGACTGTGTAGCAGA CACTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(210): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0004 a0006 others(10): Show a0001 a0004 a0006 a0007 a0009 a0010 a0012 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0014 others(14): Show a0001c0001 a0001c0002 a0001c0014 a0001c0019 a0004c0006 a0004c0016 a0006c0021 a0007c0007 a0009c0011 a0010c0012 a0012c0015 a0014c0022 a0015c0013 a0016c0020 a0017c0018 a0018c0010 a0019c0017	a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 a0001c0019t0001 a0004c0006t0001 a0004c0016t0001 a0006c0021t0001 a0007c0007t0001 a0009c0011t0001 a0010c0012t0001 a0012c0015t0001 a0014c0022t0001 a0015c0013t0001 a0016c0020t0001 a0017c0018t0001 a0018c0010t0001 a0019c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0125 a0001c0014t0001g0079 a0001c0019t0001g0099 a0004c0006t0001g0025 a0004c0016t0001g0071 a0006c0021t0001g0105 a0007c0007t0001g0097 a0007c0007t0001g0098 a0009c0011t0001g0046 a0010c0012t0001g0047 a0012c0015t0001g0068 a0014c0022t0001g0106 a0015c0013t0001g0053 a0016c0020t0001g0100 a0017c0018t0001g0096 a0018c0010t0001g0045 a0019c0017t0001g0080	213	340	0.6265	-104	c.134 others(17): Show c.1343-672_1343-569del	DCST2	ENSG00000163354.15	transcript	ENST00000368424.4	protein_coding	8/14			chr1	TogoVar
DDX51_chr12_132131594_132149319	132134686	CCCGAGTG others(97): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCC CACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01952.hp1 HG02280.hp2 HG01175.hp1 HG01952.hp1 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0005t0005 a0002c0002t0003 a0002c0005t0005	a0002c0002t0003g0004 a0002c0005t0005g0084 a0002c0002t0003g0004 a0002c0005t0005g0084	3	322	0.0093	-104	c.44 others(11): Show c.4482_*4585del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1907		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135088	ACGGTGCC others(97): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTA TGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	332	0.0030	-104	c.40 others(11): Show c.4080_*4183del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1505		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135180	CCCGAGTA others(97): Show CCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18940.hp1 NA18959.hp2 others(1): Show HG02602.hp2 NA18940.hp1 NA18959.hp2 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0009c0013 a0002c0005 a0009c0013	a0002c0005t0005 a0009c0013t0005 a0002c0005t0005 a0009c0013t0005	a0002c0005t0005g0083 a0009c0013t0005g0033 a0009c0013t0005g0080 a0002c0005t0005g0083 a0009c0013t0005g0033 a0009c0013t0005g0080	4	319	0.0125	-104	c.39 others(11): Show c.3988_*4091del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1413		chr12	TogoVar
DENND1C_chr19_6462207_6486787	6485854	TGGCTGGA others(97): Show TGGCTGGAGTACAGTGGCGCAATCATTGCAACCTCTGCCTCCTGGGTTCA AGCAATTCTCCTGCCTCAGCTTCCCGAATAGCTGGGATTACAGGTGACCG CCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0265 a0002c0003t0001g0265	1	418	0.0024	-104	c.-42 others(11): Show c.-4263_-4160del	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding		4068		chr19	TogoVar
DGKB_chr7_14140049_14907751	14212324	TTACTCTC others(97): Show TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCT CGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT TGTGA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18612.hp2 HG03831.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0031 a0001c0002t0004g0088 a0001c0001t0001g0031 a0001c0002t0004g0088	2	146	0.0137	-104	c.212 others(21): Show c.2123-34277_2123-34174del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	882463	TCCTGCGG others(97): Show TCCTGCGGGCACCCTCGCCTGATCCAGCGGTACCTCTCCCTGCGGAGGCC TCCCCTGCGCGCACCCTCGCCTGATCCAGCGGTACCTCTCCCTGCGGAGG CCTCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	29	0.0345	-104	c.19- others(17): Show c.19-25442_19-25339del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	882470	GGCACCCT others(97): Show GGCACCCTCGCCTGATCCAGCGGTACCTCTCCCTGCGGAGGCCTCCCCTG CGCGCACCCTCGCCTGATCCAGCGGTACCTCTCCCTGCGGAGGCCTCCCC TGCGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02071.hp1 HG02976.hp2 others(2): Show HG01891.hp1 HG02071.hp1 HG02976.hp2 HG03710.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0004c0008	a0001c0002t0001 a0001c0002t0010 a0001c0003t0024 others(2): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0024 a0002c0004t0026 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0024g0003 others(2): Show a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0024g0003 a0002c0004t0026g0016 a0004c0008t0016g0028	5	24	0.2083	-104	c.19- others(17): Show c.19-25293_19-25190del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1088902	CGCCTCAC others(97): Show CGCCTCACTCTCTCCACCCCTCATCCAGCAGGCTATGCCATTCTCGCTCC CCGGCCTCACTCTCTCCACCCCTCATCCAGCAGGCTATGCCATTCTCGCT CCCCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02976.hp2 NA18906.hp1 HG01496.hp2 HG02976.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0008 a0001c0002 a0003c0005 a0004c0008	a0001c0002t0001 a0003c0005t0004 a0004c0008t0016 a0001c0002t0001 a0003c0005t0004 a0004c0008t0016	a0001c0002t0001g0015 a0003c0005t0004g0037 a0004c0008t0016g0028 a0001c0002t0001g0015 a0003c0005t0004g0037 a0004c0008t0016g0028	3	40	0.0750	-104	c.74- others(19): Show c.74-169905_74-169802del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	746324	TCATGCCC others(97): Show TCATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACC CAACATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCA CCCAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02809.hp1 others(7): Show HG01884.hp1 HG02647.hp2 HG02809.hp1 HG03471.hp1 HG03579.hp1 NA18906.hp2 NA18945.hp1 NA18990.hp1 NA18998.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0024 a0001c0001 a0001c0016 a0001c0024	a0001c0001t0002 a0001c0001t0004 a0001c0016t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0016t0012 a0001c0024t0011	a0001c0001t0002g0005 a0001c0001t0002g0090 a0001c0001t0002g0306 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0090 a0001c0001t0002g0306 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0016t0012g0105 a0001c0024t0011g0041	10	234	0.0427	-104	c.102 others(19): Show c.1024+4923_1024+5026del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	746389	CTGTGACG others(97): Show CTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGG GCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCA GGGTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02145.hp2 others(12): Show HG01243.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0005 a0003c0010 a0003c0003 a0003c0005 a0003c0010	a0003c0003t0005 a0003c0005t0005 a0003c0010t0005 a0003c0003t0005 a0003c0005t0005 a0003c0010t0005	a0003c0003t0005g0256 a0003c0005t0005g0209 a0003c0005t0005g0210 others(12): Show a0003c0003t0005g0256 a0003c0005t0005g0209 a0003c0005t0005g0210 a0003c0005t0005g0216 a0003c0005t0005g0219 a0003c0005t0005g0228 a0003c0005t0005g0255 a0003c0005t0005g0257 a0003c0005t0005g0258 a0003c0005t0005g0259 a0003c0005t0005g0287 a0003c0005t0005g0290 a0003c0005t0005g0291 a0003c0005t0005g0301 a0003c0010t0005g0260	15	376	0.0399	-104	c.102 others(19): Show c.1024+4950_1024+5053del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF6_chrX_107201611_107249247	107204817	ATTATTTA others(97): Show ATTATTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAAT AAATTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAA ATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	213	0.0047	-104	c.-18 others(11): Show c.-1876_-1773del	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1793		chrX	TogoVar
DOCK8_chr9_209865_470255	403886	CTCTCTCT others(97): Show CTCTCTCTATATATATATATATATATATATACATATATATATATGTGTAT ATATATATGTGTATATATATATATGTATATATATATATATGTGTATATAT ATATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0156 a0010c0156	a0010c0156t0001 a0010c0156t0001	a0010c0156t0001g0052 a0010c0156t0001g0052	1	249	0.0040	-104	c.323 others(18): Show c.3235-1030_3235-927del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403888	CTCTCTAT others(97): Show CTCTCTATATATATATATATATATATATACATATATATATATGTGTATAT ATATATGTGTATATATATATATGTATATATATATATATGTGTATATATAT ATATG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0041 a0041	a0041c0149 a0041c0149	a0041c0149t0010 a0041c0149t0010	a0041c0149t0010g0071 a0041c0149t0010g0071	1	246	0.0041	-104	c.323 others(18): Show c.3235-1028_3235-925del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar

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