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
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(186): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0175 a0002c0003t0001g0175	1	278	0.0036	193	c.-71 others(202): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(186): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	202	0.0050	193	c.20- others(208): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(186): Show CAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	202	0.0050	193	c.20- others(208): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTGTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(186): Show CAAAGAAAGACAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG AAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	202	0.0050	193	c.20- others(208): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTT TCTGTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741243	C C	CGCGGGGG others(186): Show CGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0338 a0001c0001t0059g0338	1	330	0.0030	193	c.143 others(208): Show c.143-416_143-415insGCTCGCGGGGGGGCTCGCGGGGGGCTCGCA GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC AGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GGCTGGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(186): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCACGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0038 a0001c0001t0077g0038	1	302	0.0033	193	c.143 others(208): Show c.143-394_143-393insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCACG GGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977095	C C	CACCAACC others(186): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0190 a0002c0005t0004g0190	1	334	0.0030	193	c.215 others(210): Show c.2150-472_2150-471insTGGGGGGAGCGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCG GTTCCCGGGGTTGGT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3084912	G G	GGTCCCCC others(186): Show GGTCCCCCACTCCACTCTCCAGCACGGTCCCCCATTCCCTCCCCAGCACG GTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGT CCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACAGTCC CCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0323 a0001c0005t0002g0323	1	397	0.0025	193	c.186 others(210): Show c.186+2459_186+2460insCTCCACTCTCCAGCACGGTCCCCCATTC CCTCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCC TCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTC CCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084912	G G	GGTCCCCC others(186): Show GGTCCCCCACTCCACTCTCCAGCACGGTCCCCCATTCCCTCCCCAGCACG GTCCCCCATTCCCTCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGT CCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACAGTCC CCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0002 a0001c0038t0002	a0001c0038t0002g0322 a0001c0038t0002g0322	1	397	0.0025	193	c.186 others(210): Show c.186+2459_186+2460insCTCCACTCTCCAGCACGGTCCCCCATTC CCTCCCCAGCACGGTCCCCCATTCCCTCCCCAGCACGGTCCCCCACTCCC TCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTC CCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(186): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0217	1	25	0.0400	193	c.218 others(212): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(186): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00609.hp2 others(31): Show HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG01255.hp2 HG01975.hp1 HG02080.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03492.hp2 HG03704.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18960.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp2 NA18988.hp2 NA18994.hp1 NA18999.hp2 NA19003.hp1 NA19062.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 others(7): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047	a0001c0001t0003g0003 a0001c0001t0003g0213 a0001c0001t0003g0222 others(27): Show a0001c0001t0003g0003 a0001c0001t0003g0213 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0009g0211 a0001c0001t0009g0218 a0001c0001t0009g0238 a0001c0001t0021g0016 a0001c0001t0021g0277 a0001c0001t0022g0276 a0001c0001t0022g0278 a0001c0001t0022g0279 a0001c0001t0036g0224 a0001c0001t0039g0212 a0001c0001t0041g0003 a0001c0001t0043g0273 a0001c0001t0044g0227 a0001c0001t0047g0237	34	58	0.5862	193	c.218 others(212): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCT CCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(186): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	25	0.0400	193	c.218 others(212): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCCT CCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(186): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCTCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0267 a0001c0001t0032g0267	1	25	0.0400	193	c.218 others(212): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCTCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCT CCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PINX1_chr8_10759961_10844875	10767725	C C	CCACAGAG others(186): Show CCACAGAGACAGGCTCGGTGACCAGGCACCCTCACAGCCACACAGAGACA GGCTCGGTGACCAGGCACCCTCACAGCCACAGAGACAGGCTCGGTGACCA GGCACCCTCACAGCCACACAGAGACAGGCTCGGTGACCAGGCACCCTCAC AGCCACACAGAGACAGGCTCGGTGACCAGGCACCCTCACAGCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0050 a0001c0001t0003g0051	2	322	0.0062	193	c.472 others(210): Show c.472-1810_472-1809insTGGCTGTGAGGGTGCCTGGTCACCGAGC CTGTCTCTGTGTGGCTGTGAGGGTGCCTGGTCACCGAGCCTGTCTCTGTG TGGCTGTGAGGGTGCCTGGTCACCGAGCCTGTCTCTGTGGCTGTGAGGGT GCCTGGTCACCGAGCCTGTCTCTGTGTGGCTGTGAGGGTGCCTGGTCACC GAGCCTGTCTCTGTG	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PKP3_chr11_389209_409908	401882	C C	CGCTCACC others(186): Show CGCTCACCCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCCG CTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGG ACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	196	0.0051	193	c.173 others(212): Show c.1737+1177_1737+1178insGCTCACCCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCCGCTCACACCCGACCCGCTCACACCCGAC CCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCT CACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCAC ACCCGGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402254	C C	CACTCACA others(186): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCT CACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACC CCGGACCCCGCTCACCCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCA GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	167	0.0060	193	c.173 others(210): Show c.1738-824_1738-823insACTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCCGACCCGCTC ACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCG GGACCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHN1_chr1_961482_980865	977095	C C	CACCAACC others(186): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0009 a0001c0052t0009	a0001c0052t0009g0034 a0001c0052t0009g0034	1	338	0.0030	193	c.25 others(204): Show c.2520_*2521insACCAACCCCGGGAACCGCCTCCCGCTCCCCCCAC CAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCT CCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAAC CCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCG CTCCCCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1231		chr1	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(186): Show AAATATATATAATATATATTATATATATTTATATAAAATATATATAATAT ATATTATATATTATATATAAAATATATATAAATATATATTATATATATTA TATATAAAATATATATAAATAATATATATTATATATTATATATTATATAA TATATAATATATAATATATATTATTTATATAATATAAGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(70): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG02602.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp2 NA18971.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19062.hp1 NA19067.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0004c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0012g0032 a0004c0007t0002g0034	73	76	0.9605	193	c.-49 others(204): Show c.-4970_-4969insATATATCTTATATTATATAAATAATATATATTAT ATATTATATATTATATAATATATAATATATAATATATATTATTTATATAT ATTTTATATATAATATATATAATATATATTTATATATATTTTATATATAA TATATAATATATATTATATATATTTTATATAAATATATATAATATATATT ATATATATT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4557		chrX	TogoVar
POLE_chr12_132618762_132692342	132692257	T T	TAGTTAGT others(186): Show TAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTT AATTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTT AGTTAGTGAGCTCCCTTGCCAGTTAATTAGTGAGCTCCCTTAGCCAGTTA GTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	290	0.0034	193	c.-49 others(204): Show c.-4943_-4942insGGCAAGGGAGCTCACTAACTAACTGGCTAAGGGA GCTCACTAACTAACTGGCTAAGGGAGCTCACTAATTAACTGGCAAGGGAG CTCACTAACTAACTGGCTAAGGGAGCTCACTAACTAACTGGCTAAGGGAG CTCACTAATTAACTGGCAAGGGAGCTCACTAACTAACTGGCTAAGGGAGC TCACTAACT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		4916		chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2121667	C C	CACGGTGG others(186): Show CACGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCG TGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGT TAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	268	0.0037	193	c.335 others(212): Show c.335-13595_335-13594insACGGTGGTGGTTAGGGTCGTGGTGGT AGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAG GGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAG TTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGG TCACGGTGGTGGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PXMP2_chr12_132682587_132709985	132692257	T T	TAGTTAGT others(186): Show TAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTT AATTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTT AGTTAGTGAGCTCCCTTGCCAGTTAATTAGTGAGCTCCCTTAGCCAGTTA GTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	348	0.0029	193	c.236 others(210): Show c.236+1966_236+1967insTCCCTTAGCCAGTTAGTTAGTGAGCTCC CTTGCCAGTTAATTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCC TTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTGAGCTCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTGCCAGTTAATTAGTGAGCTCCCTTAGCC AGTTAGTTAGTGAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(186): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTCGCCT CCTGTACCCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCAC TCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0097 a0002c0003t0002g0097	1	185	0.0054	193	c.139 others(212): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTCGCCTCCTGTACCCCCCCTCACCTCCTCCTGT ACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB20_chr13_110518066_110566722	110530311	A A	ACCCGCCC others(186): Show ACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAGGTCCCAC CCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAGGTCCCACCC GCCCCACCTCTACGCAGACACAGGGTCCCGGGGAGGCAGGTCCCACCCGC CCCACCTCTACGCAGACACAGGACCCCGGGGAGGCAGGTCCCAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	424	0.0024	193	c.173 others(210): Show c.173-6115_173-6114insGTGGGACCTGCCTCCCCGGGGTCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGACCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG CGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCG TAGAGGTGGGGCGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB3B_chr1_51902956_51995700	51906869	A A	AAGGGAAG others(186): Show AAGGGAAGGAAGGAAGGAGGGAGGAGGGAGGAAGGAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAGGGAA GAAAGGAAAGAAGGAGGGAGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAAGATGAAGGAAGGAAGGAAGGAAAGATGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0019 a0001c0002t0020g0019	1	13	0.0769	193	c.13 others(206): Show c.13057_*13058insCCTTCCTTCCTTCATCTTTCCTTCCTTCCTTC CTTCATCTTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCTCCCTCC TTCTTTCCTTTCTTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTTCCTCCCTCCCTTCCTTCCTCCTTCCTCCCTCCTCCCTCCTTC CTTCCTTCCCT	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding		1086		chr1	TogoVar
RALGPS2_chr1_178720244_178926840	178750663	T T	TTTTTTTT others(186): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTCTTCT TTGTTTTATTTATAATTTTTTTTTTTTTACAATTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAG TTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	304	0.0033	193	c.-84 others(212): Show c.-84+25249_-84+25250insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATTCTTCTTTGTTTTATTTATAATTTTTTTTTTTTTACAA TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATTTTT	RALGPS2	ENSG00000116191.19	transcript	ENST00000367635.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASA3_chr13_113972783_114137623	114099675	G G	GCCCCCAC others(186): Show GCCCCCACAGCAGCCCCCCCACAGCCCCCCCAGCAGCCCCCACAGCAGCC CCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCCACAGCCCCCACAG CAGCCCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCCA GCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	52	0.0192	193	c.56- others(210): Show c.56-25839_56-25838insTGGGGGGCTGTGGGGGGCTGTGGGGGGG CTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGC TGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGGCTGTGGGGGGCTG TGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGG GGGCTGCTGTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420669	A A	ACCCCATC others(186): Show ACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCC CCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCC ATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCC CCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	438	0.0023	193	c.757 others(208): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11			chr20	TogoVar
RIOK2_chr5_97155867_97188247	97180027	A A	ATTATATA others(186): Show ATTATATATATATAATATATATATAATATATATATAAAATATATATATTA TATATATATAATATATATATAAAATATATATATAATATATATATAATATA TATATAATATATATATAAAATATATATATAATATATATATAATATATATA TAATATATATATAATATATATATAATATATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0059 a0003c0003t0014g0059	1	374	0.0027	193	c.67- others(206): Show c.67-835_67-834insAATATATATTATATATATATTATATATATATT ATATATATATTATATATATATTATATATATATTATATATATATTTTATAT ATATATTATATATATATTATATATATATTATATATATATTTTATATATAT ATTATATATATATAATATATATATTTTATATATATATTATATATATATTA TATATATATAA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(186): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0018 a0001c0002t0006g0018	1	255	0.0039	193	c.48 others(204): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505281	T T	TCTCTCCC others(186): Show TCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0116 a0001c0007t0033g0116	1	394	0.0025	193	c.-74 others(202): Show c.-744_-743insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		255		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881827	C C	CATCTATA others(186): Show CATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTA TATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGA TATATAGATGCATCTATATATCTATATAGATGCATCTATATAGATATATA GATGCATCTATATAGATATATAGATGCATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0016 a0003c0007t0001g0019 a0003c0007t0001g0016 a0003c0007t0001g0019	2	420	0.0048	193	c.21 others(204): Show c.2101_*2102insATCTATATAGATATATAGATGCATCTATATAGAT ATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAG ATGCATCTATATAGATATATAGATGCATCTATATATCTATATAGATGCAT CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1907		chr13	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(186): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCC GCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0104 a0001c0001t0021g0104	1	88	0.0114	193	c.-36 others(208): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGCGGGGC CCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTC CCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGC CGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG CCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGTGGGG others(186): Show GGGTGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCC GCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp1 others(41): Show HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01106.hp2 HG01167.hp2 HG01255.hp2 HG01952.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02258.hp1 HG02293.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03490.hp2 HG03654.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18948.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA18981.hp1 NA18986.hp2 NA19010.hp2 NA19062.hp2 NA19072.hp2 NA19080.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0037 a0001c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(37): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0285 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0284 a0001c0001t0004g0300 a0001c0001t0014g0276 a0001c0001t0014g0299 a0001c0001t0017g0032 a0001c0001t0037g0273 a0001c0003t0001g0275 a0001c0003t0001g0287 a0001c0003t0001g0291	44	131	0.3359	193	c.-36 others(208): Show c.-367+48_-367+49insTGGGGTGGAGTGGGGTGGGGTGGGGCGGGG CCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGT CCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACG CCGCTGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCC GCCGCCCCCGCGG	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	353520	T T	TCAAACTG others(186): Show TCAAACTGGGTTCCAAGGAGCCGGGGTGTGGAGCCCCTCTTCAGGACCGT GCAGGTGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAACAA ACTGGGTTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACTGTACA GGCGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0127 a0001c0001t0020g0127	1	69	0.0145	193	c.-10 others(204): Show c.-1022_-1021insTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCC CTGCTTCGCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTT GGAACCCAGTTTGTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCCCTG CTTCACCTGCACGGTCCTGAAGAGGGGCTCCACACCCCGGCTCCTTGGAA CCCAGTTTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		714		chr17	TogoVar
RPH3AL_chr17_207389_357807	353520	T T	TCAAACTG others(186): Show TCAAACTGGGTTCCAAGGAGCCGGGGTGTGGAGCCCCTCTTCAGGACTGT GCAGGTGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAACAA ACTGGGTTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACTGTACA GGCGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	69	0.0145	193	c.-10 others(204): Show c.-1022_-1021insTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCC CTGCTTCGCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTT GGAACCCAGTTTGTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCCCTG CTTCACCTGCACAGTCCTGAAGAGGGGCTCCACACCCCGGCTCCTTGGAA CCCAGTTTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		714		chr17	TogoVar
RPL14_chr3_40452339_40473587	40452909	C C	CAAGAACC others(186): Show CAAGAACCCAAAGCTCTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTTCGGCCTGGGT GACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0043 a0001c0001t0057g0043	1	416	0.0024	193	c.-45 others(204): Show c.-4563_-4562insAAGAACCCAAAGCTCTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTTCGGCCTGGGTGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAA	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding		4429		chr3	TogoVar
RTN1_chr14_59590983_59875776	59750335	T T	TAATATCT others(186): Show TAATATCTATAATATATTATATATTATATCTATAATATATTATATATTAT ATCTATAATATATATATTATATCTATAATATATAATATATCTATAATATA TAATATATCAATAATATATATATCTATAATATATAATATATCTATAATAT ATATATTATATCTATAATATATATAATATATCTATAATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0057 a0001c0001t0001g0069	2	170	0.0118	193	c.242 others(210): Show c.242-3855_242-3854insTTATATATTATAGATATATTATATATAT TATAGATATAATATATATATTATAGATATATTATATATTATAGATATATA TATTATTGATATATTATATATTATAGATATATTATATATTATAGATATAA TATATATATTATAGATATAATATATAATATATTATAGATATAATATATAA TATATTATAGATATT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(186): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGC CCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCG CCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	175	0.0057	193	c.-34 others(200): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCC CCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCA CCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCA CCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RXRA_chr9_134321455_134445585	134369006	G G	GTGTGTGG others(186): Show GTGTGTGGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGG GTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGT GCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGT GTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0126 a0001c0004t0005g0126	1	229	0.0044	193	c.29- others(210): Show c.29-32620_29-32619insGGGGGGGGTTATGTGTGTGGGGGGGGTT ATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTA TGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTG TGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGTGG GGGGGGTTATGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369015	G G	GGGGGGTT others(186): Show GGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGGGTTATGTGT GGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0127 a0001c0001t0026g0127	1	226	0.0044	193	c.29- others(210): Show c.29-32612_29-32611insTTATGTGTGTGGGGGGGGTTATGTGTGT ATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTG TGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGG GTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTT ATGTGTGTGTGGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SAMD11_chr1_918923_949574	934125	A A	AGGCGGCT others(186): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	398	0.0025	193	c.843 others(210): Show c.843-1625_843-1624insGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAG GTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934547	G G	GCGGCTGC others(186): Show GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0248 a0002c0003t0004g0248	1	430	0.0023	193	c.843 others(210): Show c.843-1224_843-1223insGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGTC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	939398	G G	GCCTCCCC others(186): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCAC CTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCACC TCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTC CCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0021 a0021	a0021c0036 a0021c0036	a0021c0036t0006 a0021c0036t0006	a0021c0036t0006g0303 a0021c0036t0006g0303	1	388	0.0026	193	c.119 others(208): Show c.1195+96_1195+97insGGTGAGGACCCACCCTGGCATGATCCCCCT CATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCA TCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATC ACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCA CCTCCCCAGCCAC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668651	T T	TACCCTCC others(186): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCTCTCCCTCAC CCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCTCACCC TCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0135 a0003c0003t0002g0135	1	204	0.0049	193	c.249 others(212): Show c.2496-1782_2496-1781insGAGGGGAGAGGGAGGTGAGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATG GAGGGTGAGGGAGAGGGAGGGTGAGGAGAGGGAGGGTGAGGGAGAGGGAG GATGAGGGGAGAGGGAGGGTGAGGGAGAGGAGGGTGAGGGAGAGGGAGGG TGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCCC others(186): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	249	0.0040	193	c.49 others(204): Show c.4914_*4915insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTC TCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATA others(186): Show ATATTATATTATATTTACATATAATATATTATTATATTATATTTACATAT AATATATTATTATATTATATTTACATATAATATATTATTATATTATATTT ACATATAATATATTATTATATTATATTTACATATAATATATTATTATATT ATATTTACATATAATGTATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	244	0.0041	193	c.453 others(212): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATA others(186): Show ATATTATATTATATTTACATATAATATATTATTATATTATATTTACATAT AATATATTATTATATTATATTTACATATAATATATTATTATATTATATTT ACATATAATATATTATTATATTATATTTACATATAATGTATTATTATATT ATATTTACATATAATGTATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0035 a0002c0015t0035	a0002c0015t0035g0248 a0002c0015t0035g0248	1	244	0.0041	193	c.453 others(212): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(186): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGG AAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03831.hp1 HG02735.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0062 a0001c0002t0004 a0001c0004t0062	a0001c0002t0004g0034 a0001c0004t0062g0114 a0001c0002t0004g0034 a0001c0004t0062g0114	2	108	0.0185	193	c.125 others(212): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTT CATTTCCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTC CTTTCCTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCC TTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77484974	T T	TGATGCTG others(186): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0134 a0001c0001t0028g0134	1	139	0.0072	193	c.914 others(210): Show c.914-2446_914-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGT GGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGT GGTGATGGGGCGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SFTPB_chr2_85652314_85673199	85666391	C C	CTGTGTGT others(186): Show CTGTGTGTGTGTGTGTGTCCGGCCCGCTGGGGTGTTGTGTGTGTGCTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTAC TGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGC TGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 HG02630.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0031 a0002c0003t0004g0074 a0002c0003t0004g0031 a0002c0003t0004g0074	2	403	0.0050	193	c.393 others(208): Show c.393+225_393+226insCAGCACCCTATCCAGACACATACACACACA CAGTACCCCAGCCAGCTGGAAACACACACACACACAGCACTCCATCCAGA CACATACCCACACAGTACCCCAGCCAGCCAGACACACACACACACACACA CACACACACACACACACAGCACACACACAACACCCCAGCGGGCCGGACAC ACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar

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