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
CALN1_chr7_71774491_72417338	72205551	A A	AAAAAAAT others(184): Show AAAAAAATATATATATATATATACACATATATATATATACATATATATAC ACATATATATATATACATATATATACACATATATATATATACATATATAT ACACATATATATACATACATATATATACATATATATACATATATATATAT ACATATATATATACATATATATATATACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	52	0.0192	191	c.244 others(210): Show c.244+73134_244+73135insATGTATATATATATGTATATATATAT ATGTATATATATATGTATATATATATATGTATATATATGTATATATATGT ATGTATATATATGTGTATATATATGTATATATATATATGTGTATATATAT GTATATATATATATGTGTATATATATGTATATATATATATGTGTATATAT ATATATATATTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(184): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0099 a0001c0001t0002 a0001c0001t0099	a0001c0001t0002g0168 a0001c0001t0099g0034 a0001c0001t0002g0168 a0001c0001t0099g0034	2	151	0.0132	191	c.625 others(208): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(184): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCTCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0001 a0002c0047t0001	a0002c0047t0001g0371 a0002c0047t0001g0371	1	357	0.0028	191	c.-22 others(208): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGTCGTCTCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(184): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0240 a0003c0005t0001g0240	1	43	0.0233	191	c.234 others(208): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(184): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19064.hp1 NA19077.hp2 NA18946.hp1 NA19064.hp1 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0003c0005t0001 a0002c0003t0001 a0003c0005t0001	a0002c0003t0001g0327 a0002c0003t0001g0349 a0003c0005t0001g0235 a0002c0003t0001g0327 a0002c0003t0001g0349 a0003c0005t0001g0235	3	45	0.0667	191	c.234 others(208): Show c.234+6868_234+6869insCTTCTTCCTCTCCTTCTCCTTCTCCTTC TTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(184): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0043 a0001c0002t0006g0043	1	43	0.0233	191	c.234 others(208): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(184): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	18	0.0556	191	c.-22 others(202): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(184): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 NA18963.hp2 HG01358.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0002 a0001c0001t0002 a0001c0011t0002	a0001c0001t0002g0089 a0001c0011t0002g0095 a0001c0001t0002g0089 a0001c0011t0002g0095	2	19	0.1053	191	c.-22 others(202): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(184): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19087.hp1 NA19007.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	2	19	0.1053	191	c.-22 others(202): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC62_chr12_122769572_122832528	122822680	T T	TCTCCTGC others(184): Show TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01884.hp1 others(13): Show HG01099.hp2 HG01109.hp1 HG01884.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0005 a0001c0014 others(2): Show a0001c0001 a0001c0005 a0001c0014 a0004c0006 a0007c0011	a0001c0001t0002 a0001c0005t0002 a0001c0014t0002 others(2): Show a0001c0001t0002 a0001c0005t0002 a0001c0014t0002 a0004c0006t0002 a0007c0011t0010	a0001c0001t0002g0019 a0001c0001t0002g0169 a0001c0001t0002g0176 others(13): Show a0001c0001t0002g0019 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0005t0002g0280 a0001c0005t0002g0281 a0001c0005t0002g0282 a0001c0014t0002g0195 a0004c0006t0002g0140 a0007c0011t0010g0198	16	249	0.0643	191	c.200 others(208): Show c.2002-686_2002-685insCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	CCDC62	ENSG00000130783.14	transcript	ENST00000253079.11	protein_coding	11/12			chr12	TogoVar
CCDC62_chr12_122769572_122832528	122822680	T T	TCTCCTGC others(184): Show TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	234	0.0043	191	c.200 others(208): Show c.2002-686_2002-685insCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	CCDC62	ENSG00000130783.14	transcript	ENST00000253079.11	protein_coding	11/12			chr12	TogoVar
CCDC62_chr12_122769572_122832528	122822680	T T	TCTCCTGC others(184): Show TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp1 others(43): Show HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG01069.hp2 HG01099.hp1 HG01261.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG03540.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18959.hp1 NA18966.hp2 NA18972.hp2 NA18980.hp1 NA18982.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp1 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 others(43): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0081 a0001c0001t0002g0129 a0001c0001t0002g0201 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0274 a0001c0001t0002g0275	46	279	0.1649	191	c.200 others(208): Show c.2002-686_2002-685insCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	CCDC62	ENSG00000130783.14	transcript	ENST00000253079.11	protein_coding	11/12			chr12	TogoVar
CD36_chr7_80633642_80684274	80683076	A A	ATATGTGT others(184): Show ATATGTGTATATATGTGTATTTATACGTATATGTGTATTATGTGTATATA TACGTATATGTGTATTATGTGTATATATACGTATATGTGTATATATGTGT ATTTATACGTATATGTGTATTATGTGTATATATACGTATATGTGTATATA TGTGTATATATACGTATATGTGTATATATGTGTATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG03041.hp1 HG03139.hp1 HG01099.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0056 a0001c0001t0057 a0001c0001t0037 a0001c0001t0056 a0001c0001t0057	a0001c0001t0037g0270 a0001c0001t0056g0051 a0001c0001t0057g0050 a0001c0001t0037g0270 a0001c0001t0056g0051 a0001c0001t0057g0050	3	390	0.0077	191	c.66 others(202): Show c.6693_*6694insTATGTGTATATATGTGTATTTATACGTATATGTG TATTATGTGTATATATACGTATATGTGTATTATGTGTATATATACGTATA TGTGTATATATGTGTATTTATACGTATATGTGTATTATGTGTATATATAC GTATATGTGTATATATGTGTATATATACGTATATGTGTATATATGTGTAT ATATACG	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3803		chr7	TogoVar
CDC34_chr19_526760_547087	540817	G G	GGAGGCCG others(184): Show GGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC AGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCTGGGTTTAGAATCCTGCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	240	0.0042	191	c.498 others(206): Show c.498-499_498-498insCAGGTTTAGAATCCGGAGGCCGGGGTGGCC AGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCAGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCTGGGTTTAGAATCCTGCTGAGGCCGGGGTG GCCAGGCCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41670414	A A	AAGCGCAA others(184): Show AAGCGCAATGGTTTCATATAACAGCCATGCCTTCTTAGGAAAAAGCTGTG ATGCCTTCTGAGAGTTTGCTCTCAGTCAGGCAGGATCAAAGAAGTACAAC TCCTTAGTACAATCCCTTAAACCGTGAGTCCTGCACAGCACCTCACTAAT CCATTCCCTGCCCAGGTGATGTGTGCATAGGTGAAGAGTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	410	0.0024	191	c.43 others(202): Show c.4361_*4362insCTGACTCTTCACCTATGCACACATCACCTGGGCA GGGAATGGATTAGTGAGGTGCTGTGCAGGACTCACGGTTTAAGGGATTGT ACTAAGGAGTTGTACTTCTTTGATCCTGCCTGACTGAGAGCAAACTCTCA GAAGGCATCACAGCTTTTTCCTAAGAAGGCATGGCTGTTATATGAAACCA TTGCGCT	CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding		2888		chr19	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(184): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	415	0.0024	191	c.12 others(202): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132888371	A A	ACCTTCAC others(184): Show ACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCA CCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCTGCCTTCACCCCTGC CGCCTGCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCGCCT TCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0007 a0012c0025t0002g0007	1	242	0.0041	191	c.330 others(210): Show c.3305-2413_3305-2412insCGGCAGGGGTGAAGGCGGCAGGGGTG CAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGC GGCAGGGGTGCAGGCGGCAGGGGTGAAGGCAGCAGGGGTGAAGGTGGCAG GTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGG CGGCAGGGGTGAAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFI_chr4_109735695_109806999	109753514	A A	AAATAAAT others(184): Show AAATAAATATTTATAATATATATTTATAAATATTTATTATATAAATAAAT ATTTATAATATATATTTATTATATAATAAATATTTATAATATATATTTAT TATATAAATATTTATAATATATATTTATTATATAATAAATATTTATAATA TATTTATTATATAATAACTATTTATATATATATATTTATATT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0290 a0007c0013t0001g0290	1	166	0.0060	191	c.905 others(208): Show c.905-1012_905-1011insAATATAAATATATATATATAAATAGTTA TTATATAATAAATATATTATAAATATTTATTATATAATAAATATATATTA TAAATATTTATATAATAAATATATATTATAAATATTTATTATATAATAAA TATATATTATAAATATTTATTTATATAATAAATATTTATAAATATATATT ATAAATATTTATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(184): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGAGGGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	2	0.5000	191	c.319 others(208): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTC CTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCT CCTCTCCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(184): Show CACCTCACACACACACACACACCACTCAGTACTCACACACACCACTCACA CCACTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTC ACACAACACACACACCACTCACAATCACACACACCACTCACACAACCACT CACATACCACCCACATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp1 others(14): Show HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01496.hp1 HG02258.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA18906.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0039 a0001c0004t0008 a0001c0004t0009 a0001c0004t0038 a0001c0004t0040 a0001c0010t0009	a0001c0001t0003g0231 a0001c0001t0008g0039 a0001c0001t0008g0119 others(14): Show a0001c0001t0003g0231 a0001c0001t0008g0039 a0001c0001t0008g0119 a0001c0001t0008g0196 a0001c0001t0008g0223 a0001c0001t0009g0204 a0001c0001t0039g0085 a0001c0004t0008g0195 a0001c0004t0009g0079 a0001c0004t0009g0110 a0001c0004t0009g0111 a0001c0004t0009g0198 a0001c0004t0038g0181 a0001c0004t0040g0038 a0001c0010t0009g0114 a0001c0010t0009g0115 a0001c0010t0009g0191	17	20	0.8500	191	c.430 others(206): Show c.430+893_430+894insCCTCACACACACACACACACCACTCAGTAC TCACACACACCACTCACACCACTCACACTACTCACACCACTCATACACAC CACCCACACACACTGTTCACACAACACACACACCACTCACAATCACACAC ACCACTCACACAACCACTCACATACCACCCACATGACTCAACACACACAC CACTCACACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CNBD1_chr8_86861415_87387859	87136740	T T	TTTATATT others(184): Show TTTATATTATATTTATATTATATATAAATATATATATTTATATTATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATATATATAAATATATATATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	138	0.0072	191	c.432 others(210): Show c.432-69252_432-69251insTATATTATATTTATATTATATATAAA TATATATATTTATATTATATTTATATTATATATAAATATATATATTTATA TTATATATAAATATATATATTTATATTATATATAAATATATATATTTATA TTATATATAAATATATATATTTATATATATATAAATATATATATTTATAT TATATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGB1_chr16_57877340_57976128	57911456	G G	GTTTTTTT others(184): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	358	0.0028	191	c.249 others(208): Show c.2492+296_2492+297insAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	25/32			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGGGTG others(184): Show GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0003 a0001c0070t0003	a0001c0070t0003g0026 a0001c0070t0003g0026	1	168	0.0060	191	c.268 others(210): Show c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(184): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0063 a0008c0063	a0008c0063t0003 a0008c0063t0003	a0008c0063t0003g0106 a0008c0063t0003g0106	1	294	0.0034	191	c.85- others(208): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(184): Show AGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp1 NA18522.hp2 HG02486.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0175 a0001c0001t0001g0023 a0001c0001t0001g0175	3	222	0.0135	191	c.630 others(206): Show c.630+131_630+132insTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTG GGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(184): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	235	0.0043	191	c.630 others(206): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3592319	C C	CGAGAGGG others(184): Show CGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0312 a0002c0002t0001g0312	1	147	0.0068	191	c.-28 others(202): Show c.-2876_-2875insGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2792		chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587336	C C	CCCCACCC others(184): Show CCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACACCGGGAC CTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCC CCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCCCTCCCCCCCCCC CGCCGCCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0295 a0001c0005t0002g0295	1	346	0.0029	191	c.927 others(206): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCC CCCCCTCCCCCCCCCCCGCCGCCCCCCGCCCCCGCCCCCGCCCCCGCCCC CGCCCCCGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924115	C C	CCCCCCAC others(184): Show CCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCC GGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0151 a0012c0013t0001g0151	1	337	0.0030	191	c.488 others(208): Show c.488+1480_488+1481insGACCCAGTCCCCACACTAACCCGGCCCC CACACTGACCCGGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAG TCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924133	T T	TCCCCACA others(184): Show TCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCA GTCCCCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0007 a0016c0073t0007	a0016c0073t0007g0232 a0016c0073t0007g0232	1	200	0.0050	191	c.488 others(208): Show c.488+1497_488+1498insAACCCGGCCCCCACACTAACCCAGTCCC CACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTACCCCGGCC CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCA GCCCCCACACTAACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924220	G G	GCCCCCCA others(184): Show GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTA ACCCGGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACT AACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0031 a0020c0026t0001g0031	1	298	0.0034	191	c.489 others(208): Show c.489-1499_489-1498insCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAA CCCGGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924631	A A	AACCCAGT others(184): Show AACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACAC TAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0110 a0007c0007t0001g0110	1	310	0.0032	191	c.489 others(208): Show c.489-1093_489-1092insACCCAGTCCCCACACTAACCCGGCCCCC ACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTGACCCGG CCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAATCC GGCCCCCACACTG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924657	C C	CCCCCACA others(184): Show CCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTACCCC GGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0031 a0031	a0031c0093 a0031c0093	a0031c0093t0001 a0031c0093t0001	a0031c0093t0001g0072 a0031c0093t0001g0072	1	310	0.0032	191	c.489 others(208): Show c.489-1051_489-1050insTCCCCACACTAACCCAGCCCCCCACACT ACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACA CTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CACACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CUL4A_chr13_113204613_113272108	113262779	A A	ACTTATAC others(184): Show ACTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCACTTATA CGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCC TTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGTCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	374	0.0027	191	c.218 others(208): Show c.2185-675_2185-674insGTCTGCCTCACTTATACGTGCCCTTGCT GATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGTCGGGTCTGCCTCGCTTATACGTGTCTGCCTCGCTTATACGTGCCC TTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGA TGGCAGATGTCGG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP3A5_chr7_99643194_99684996	99675643	T T	TCTCCCTC others(184): Show TCTCCCTCCCCACTCCTCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCCTT CCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTC CCCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	276	0.0036	191	c.165 others(206): Show c.165+471_165+472insGAGGAGGGGAGGGGAGGGGGGAGGAGGGGA GGGGGAGGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGA GGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGA GGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGGAGGGGAGAGGAG TGGGGAGGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	ATTATATA others(184): Show ATTATATATTATATTATATATATATTAAAAATATATATATGTAATATATA ATTATATATTACATATTATGATATATAATATATAATTATATATTATATAT TATATGATATACATATATATTATATGCATATAATATATACATTATATTAT ATGCATATAATATATACATATATTATATGCATATAATAATAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	4	0.2500	191	c.126 others(208): Show c.126+1125_126+1126insGTATTATTATATGCATATAATATATGTA TATATTATATGCATATAATATAATGTATATATTATATGCATATAATATAT ATGTATATCATATAATATATAATATATAATTATATATTATATATCATAAT ATGTAATATATAATTATATATTACATATATATATTTTTAATATATATATA ATATAATATATAA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(184): Show GTATATACATATAATATAATATGTATATACATATAATAATTATATGTATA TACATTAAATATTATATGTATATATACATATAATTATTATATGTATATAT ACATATAATTATATGTATATATACATATAATTATTATATGTATATATACA TATAATTATTATATGTATATATACATATAATTATTATATGTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0056 a0001c0005t0004g0056	1	53	0.0189	191	c.237 others(210): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATAATAATTATATGTATATAT ACATATAATTATATGTATATATACATATAATAATTATATGTATATATACA TATAATATTTAATGTATATACATATAATTATTATATGTATATACATATTA TATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50598742	C C	CCCCTCTC others(184): Show CCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCC TCCCCCTCCCGTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCC CCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	278	0.0036	191	c.101 others(210): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCGTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK1_chr10_126900428_127457516	127362885	C C	CCACACAC others(184): Show CCACACACACATACACATGCACGTCCCCCCACACACATACACATGCACAT CCCCACACACACACACACACACACACACATGCGCATCCCCACACACACAC ACATACACATACACATCCCCCCCACACACACGCACATCCCCACACACACG TACACATGCACATCCCCACACACACACACATGCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0113 a0001c0027t0002g0113	1	127	0.0079	191	c.343 others(208): Show c.3432+683_3432+684insTACACATGCACGTCCCCCCACACACATA CACATGCACATCCCCACACACACACACACACACACACACATGCGCATCCC CACACACACACACATACACATACACATCCCCCCCACACACACGCACATCC CCACACACACGTACACATGCACATCCCCACACACACACACATGCACCTCC CCACACACACACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(184): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATTAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02572.hp2 HG00741.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	52	0.0385	191	c.554 others(208): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATTAATATATATATTTAAAAGTAT ATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DYM_chr18_49031387_49465645	49440578	T T	TTATATAT others(184): Show TTATATATGACTATATATTATATATATAATATATGACTATATATTATATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATATATAACATATGACT ATATATTATATATATATAACATATGACTATATATTATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0143 a0001c0001t0018g0143	1	259	0.0039	191	c.-53 others(210): Show c.-53-10132_-53-10131insTATATATAATATATAGTCATATGTTA TATATATATAATATATAGTCATATGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATATTATATATATAAT ATATAGTCATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(184): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0071 a0003c0004t0001g0071	1	224	0.0045	191	c.215 others(208): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGA AGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(184): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp1 others(5): Show HG00140.hp2 HG00639.hp2 HG00733.hp1 HG02040.hp2 NA18979.hp2 NA19012.hp1 NA19065.hp2 NA19079.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0001 a0001c0001t0007 a0011c0013t0001 a0001c0001t0001 a0001c0001t0007 a0011c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0007g0001 a0001c0001t0007g0131 a0011c0013t0001g0025	8	231	0.0346	191	c.215 others(208): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGA AGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOVL6_chr4_110040846_110203615	110084076	C C	CTATATAT others(184): Show CTATATATGATATATATGATATATACATGTTATATATCATATATATCATA TATATGTTATATATGATATATAACATATATATGATATATATTATATATAT AACATATATGTGATGATATATATGATATATATAACATATATATGATATAT ATGATATATACATGTTATATATCATATATATCATATATATGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0254 a0001c0001t0027g0254	1	210	0.0048	191	c.221 others(210): Show c.221+21420_221+21421insTCATATATATGATATATATGATATAT AACATGTATATATCATATATATCATATATATGTTATATATATCATATATA TCATCACATATATGTTATATATATAATATATATCATATATATGTTATATA TCATATATAACATATATATGATATATATGATATATAACATGTATATATCA TATATATCATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(184): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCGTGTGGGGGCATGGGGGGCGT GGGAGGCATGGAGGGGTGTGGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0009 a0002c0012t0009	a0002c0012t0009g0091 a0002c0012t0009g0091	1	5	0.2000	191	c.219 others(210): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCCACA CCCCTCCATGCCTCCCACGCCCCCCATGCCCCCACACGCCCCTCCACTCC CCCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCC CTCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACA CACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(184): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACG TGGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	5	0.2000	191	c.219 others(210): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATGCCTCCCACGTCCCCCATGCCCCCACATGCCCCTCCACTCCC CCCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCC CTCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACA CACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(184): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGGCGTGGAGGGGTGTGGGAGGC GTGGAGGGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACG TGGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0003 a0002c0003t0027g0003	1	5	0.2000	191	c.219 others(210): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATGCCTCCCACGTCCCCCATGCCCCCACATGCCCCTCCACTCCC CCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCCACATCC CTCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACA CACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ESYT3_chr3_138429616_138484925	138476360	A A	ATCAATTC others(184): Show ATCAATTCGCCTTTCCCTAGTCGGGCCGGTAGGGTGGGCGGTGAAGTTTG AAGAGAATGGTTAGGGGCCGGACTGTGGGCTCGGGGGGGAGGGGGGAGGC GGGGGGGTGGAAGAAGGAGGGAGTTGAGGAAGGGGGGAGGGGGGGGGGGG GGAGGGGGAGCGAAGGAGGGGAGAGGGAGATACCAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0177 a0012c0020t0001g0177	1	336	0.0030	191	c.257 others(206): Show c.2574+32_2574+33insTCAATTCGCCTTTCCCTAGTCGGGCCGGTA GGGTGGGCGGTGAAGTTTGAAGAGAATGGTTAGGGGCCGGACTGTGGGCT CGGGGGGGAGGGGGGAGGCGGGGGGGTGGAAGAAGGAGGGAGTTGAGGAA GGGGGGAGGGGGGGGGGGGGGAGGGGGAGCGAAGGAGGGGAGAGGGAGAT ACCAGAGGGAG	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	21/22			chr3	TogoVar
F10_chr13_113117799_113154529	113151664	T T	TGGGGAGC others(184): Show TGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAG AACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGG AGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAG AGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18967.hp2 HG01099.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0298 a0001c0002t0001g0276 a0001c0002t0001g0298	2	410	0.0049	191	c.21 others(202): Show c.2147_*2148insGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAG GAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTG AGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGT CACGGTG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2136		chr13	TogoVar
FER1L6_chr8_123846987_124125061	123856240	C C	CATATGTG others(184): Show CATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTA TATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATA TGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGA TATATGTATATACATATGTGTATGAGATATATGTATATACAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0011 a0011	a0011c0055 a0011c0055	a0011c0055t0002 a0011c0055t0002	a0011c0055t0002g0184 a0011c0055t0002g0184	1	149	0.0067	191	c.-8+ others(206): Show c.-8+4057_-8+4058insATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATG TATATACATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar

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